SNP Links for Protein (Select 315434251) - SNP

Links from Protein

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Select item 14888763701.

rs1488876370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6096681 (GRCh38)
1:6156741 (GRCh37)
Canonical SPDI:: NC_000001.11:6096680:C:T
Gene:: KCNAB2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6096681C>T, NC_000001.10:g.6156741C>T, NG_047091.1:g.109384C>T, NM_003636.4:c.850C>T, NM_003636.3:c.850C>T, NM_172130.3:c.808C>T, NM_172130.2:c.808C>T, NM_001199862.2:c.994C>T, NM_001199862.1:c.994C>T, NM_001199863.2:c.649C>T, NM_001199863.1:c.649C>T, NM_001199861.2:c.850C>T, NM_001199861.1:c.850C>T, NM_001199860.2:c.850C>T, NM_001199860.1:c.850C>T, XM_011542321.4:c.850C>T, XM_011542321.3:c.850C>T, XM_011542321.2:c.850C>T, XM_011542321.1:c.850C>T, XM_005263514.4:c.808C>T, XM_005263514.3:c.808C>T, XM_005263514.2:c.808C>T, XM_005263514.1:c.808C>T, XM_011542322.3:c.850C>T, XM_011542322.2:c.850C>T, XM_011542322.1:c.850C>T, XM_017002620.2:c.949C>T, XM_017002620.1:c.949C>T, XM_047432866.1:c.850C>T, XM_047432870.1:c.850C>T, XM_047432872.1:c.808C>T, XM_047432867.1:c.850C>T, NP_003627.1:p.Arg284Cys, NP_742128.1:p.Arg270Cys, NP_001186791.1:p.Arg332Cys, NP_001186792.1:p.Arg217Cys, NP_001186790.1:p.Arg284Cys, NP_001186789.1:p.Arg284Cys, XP_011540623.1:p.Arg284Cys, XP_005263571.1:p.Arg270Cys, XP_011540624.1:p.Arg284Cys, XP_016858109.1:p.Arg317Cys, XP_047288822.1:p.Arg284Cys, XP_047288826.1:p.Arg284Cys, XP_047288828.1:p.Arg270Cys, XP_047288823.1:p.Arg284Cys

Select item 14872220202.

rs1487222020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6096650 (GRCh38)
1:6156710 (GRCh37)
Canonical SPDI:: NC_000001.11:6096649:G:A
Gene:: KCNAB2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6096650G>A, NC_000001.10:g.6156710G>A, NG_047091.1:g.109353G>A, NM_003636.4:c.819G>A, NM_003636.3:c.819G>A, NM_172130.3:c.777G>A, NM_172130.2:c.777G>A, NM_001199862.2:c.963G>A, NM_001199862.1:c.963G>A, NM_001199863.2:c.618G>A, NM_001199863.1:c.618G>A, NM_001199861.2:c.819G>A, NM_001199861.1:c.819G>A, NM_001199860.2:c.819G>A, NM_001199860.1:c.819G>A, XM_011542321.4:c.819G>A, XM_011542321.3:c.819G>A, XM_011542321.2:c.819G>A, XM_011542321.1:c.819G>A, XM_005263514.4:c.777G>A, XM_005263514.3:c.777G>A, XM_005263514.2:c.777G>A, XM_005263514.1:c.777G>A, XM_011542322.3:c.819G>A, XM_011542322.2:c.819G>A, XM_011542322.1:c.819G>A, XM_017002620.2:c.918G>A, XM_017002620.1:c.918G>A, XM_047432866.1:c.819G>A, XM_047432870.1:c.819G>A, XM_047432872.1:c.777G>A, XM_047432867.1:c.819G>A

Select item 14851838373.

rs1485183837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:6094473 (GRCh38)
1:6154533 (GRCh37)
Canonical SPDI:: NC_000001.11:6094472:C:G
Gene:: KCNAB2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6094473C>G, NC_000001.10:g.6154533C>G, NG_047091.1:g.107176C>G, NM_003636.4:c.576C>G, NM_003636.3:c.576C>G, NM_172130.3:c.534C>G, NM_172130.2:c.534C>G, NM_001199862.2:c.720C>G, NM_001199862.1:c.720C>G, NM_001199863.2:c.375C>G, NM_001199863.1:c.375C>G, NM_001199861.2:c.576C>G, NM_001199861.1:c.576C>G, NM_001199860.2:c.576C>G, NM_001199860.1:c.576C>G, XM_011542321.4:c.576C>G, XM_011542321.3:c.576C>G, XM_011542321.2:c.576C>G, XM_011542321.1:c.576C>G, XM_005263514.4:c.534C>G, XM_005263514.3:c.534C>G, XM_005263514.2:c.534C>G, XM_005263514.1:c.534C>G, XM_011542322.3:c.576C>G, XM_011542322.2:c.576C>G, XM_011542322.1:c.576C>G, XM_017002620.2:c.675C>G, XM_017002620.1:c.675C>G, XM_047432866.1:c.576C>G, XM_047432870.1:c.576C>G, XM_047432872.1:c.534C>G, XM_047432867.1:c.576C>G

Select item 14847529114.

rs1484752911 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:6087484 (GRCh38)
1:6147544 (GRCh37)
Canonical SPDI:: NC_000001.11:6087483:T:A
Gene:: KCNAB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6087484T>A, NC_000001.10:g.6147544T>A, NG_047091.1:g.100187T>A, NM_003636.4:c.344T>A, NM_003636.3:c.344T>A, NM_172130.3:c.302T>A, NM_172130.2:c.302T>A, NM_001199862.2:c.443T>A, NM_001199862.1:c.443T>A, NM_001199863.2:c.143T>A, NM_001199863.1:c.143T>A, NM_001199861.2:c.344T>A, NM_001199861.1:c.344T>A, NM_001199860.2:c.344T>A, NM_001199860.1:c.344T>A, XM_011542321.4:c.344T>A, XM_011542321.3:c.344T>A, XM_011542321.2:c.344T>A, XM_011542321.1:c.344T>A, XM_005263514.4:c.302T>A, XM_005263514.3:c.302T>A, XM_005263514.2:c.302T>A, XM_005263514.1:c.302T>A, XM_011542322.3:c.344T>A, XM_011542322.2:c.344T>A, XM_011542322.1:c.344T>A, XM_017002620.2:c.443T>A, XM_017002620.1:c.443T>A, XM_047432866.1:c.344T>A, XM_047432870.1:c.344T>A, XM_047432872.1:c.302T>A, XM_047432867.1:c.344T>A, XM_047432878.1:c.344T>A, NP_003627.1:p.Ile115Asn, NP_742128.1:p.Ile101Asn, NP_001186791.1:p.Ile148Asn, NP_001186792.1:p.Ile48Asn, NP_001186790.1:p.Ile115Asn, NP_001186789.1:p.Ile115Asn, XP_011540623.1:p.Ile115Asn, XP_005263571.1:p.Ile101Asn, XP_011540624.1:p.Ile115Asn, XP_016858109.1:p.Ile148Asn, XP_047288822.1:p.Ile115Asn, XP_047288826.1:p.Ile115Asn, XP_047288828.1:p.Ile101Asn, XP_047288823.1:p.Ile115Asn, XP_047288834.1:p.Ile115Asn

Select item 14831215895.

rs1483121589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6090444 (GRCh38)
1:6150504 (GRCh37)
Canonical SPDI:: NC_000001.11:6090443:C:T
Gene:: KCNAB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000102/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.6090444C>T, NC_000001.10:g.6150504C>T, NG_047091.1:g.103147C>T, NM_003636.4:c.471C>T, NM_003636.3:c.471C>T, NM_172130.3:c.429C>T, NM_172130.2:c.429C>T, NM_001199862.2:c.570C>T, NM_001199862.1:c.570C>T, NM_001199863.2:c.270C>T, NM_001199863.1:c.270C>T, NM_001199861.2:c.471C>T, NM_001199861.1:c.471C>T, NM_001199860.2:c.471C>T, NM_001199860.1:c.471C>T, XM_011542321.4:c.471C>T, XM_011542321.3:c.471C>T, XM_011542321.2:c.471C>T, XM_011542321.1:c.471C>T, XM_005263514.4:c.429C>T, XM_005263514.3:c.429C>T, XM_005263514.2:c.429C>T, XM_005263514.1:c.429C>T, XM_011542322.3:c.471C>T, XM_011542322.2:c.471C>T, XM_011542322.1:c.471C>T, XM_017002620.2:c.570C>T, XM_017002620.1:c.570C>T, XM_047432866.1:c.471C>T, XM_047432870.1:c.471C>T, XM_047432872.1:c.429C>T, XM_047432867.1:c.471C>T, XM_047432878.1:c.471C>T

Select item 14813343476.

rs1481334347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6098515 (GRCh38)
1:6158575 (GRCh37)
Canonical SPDI:: NC_000001.11:6098514:C:T
Gene:: KCNAB2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.6098515C>T, NC_000001.10:g.6158575C>T, NG_047091.1:g.111218C>T, NM_003636.4:c.1045C>T, NM_003636.3:c.1045C>T, NM_172130.3:c.1003C>T, NM_172130.2:c.1003C>T, NM_001199862.2:c.1189C>T, NM_001199862.1:c.1189C>T, NM_001199863.2:c.844C>T, NM_001199863.1:c.844C>T, NM_001199861.2:c.1045C>T, NM_001199861.1:c.1045C>T, NM_001199860.2:c.1045C>T, NM_001199860.1:c.1045C>T, XM_011542321.4:c.*55C>T, XM_011542321.3:c.*55C>T, XM_011542321.2:c.*55C>T, XM_011542321.1:c.*55C>T, XM_005263514.4:c.1003C>T, XM_005263514.3:c.1003C>T, XM_005263514.2:c.1003C>T, XM_005263514.1:c.1003C>T, XM_011542322.3:c.*55C>T, XM_011542322.2:c.*55C>T, XM_011542322.1:c.*55C>T, XM_017002620.2:c.1144C>T, XM_017002620.1:c.1144C>T, XM_047432866.1:c.*55C>T, XM_047432870.1:c.1045C>T, XM_047432872.1:c.1003C>T, XM_047432867.1:c.1045C>T, NP_003627.1:p.His349Tyr, NP_742128.1:p.His335Tyr, NP_001186791.1:p.His397Tyr, NP_001186792.1:p.His282Tyr, NP_001186790.1:p.His349Tyr, NP_001186789.1:p.His349Tyr, XP_005263571.1:p.His335Tyr, XP_016858109.1:p.His382Tyr, XP_047288826.1:p.His349Tyr, XP_047288828.1:p.His335Tyr, XP_047288823.1:p.His349Tyr

Select item 14745673567.

rs1474567356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6090466 (GRCh38)
1:6150526 (GRCh37)
Canonical SPDI:: NC_000001.11:6090465:C:T
Gene:: KCNAB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6090466C>T, NC_000001.10:g.6150526C>T, NG_047091.1:g.103169C>T, NM_003636.4:c.493C>T, NM_003636.3:c.493C>T, NM_172130.3:c.451C>T, NM_172130.2:c.451C>T, NM_001199862.2:c.592C>T, NM_001199862.1:c.592C>T, NM_001199863.2:c.292C>T, NM_001199863.1:c.292C>T, NM_001199861.2:c.493C>T, NM_001199861.1:c.493C>T, NM_001199860.2:c.493C>T, NM_001199860.1:c.493C>T, XM_011542321.4:c.493C>T, XM_011542321.3:c.493C>T, XM_011542321.2:c.493C>T, XM_011542321.1:c.493C>T, XM_005263514.4:c.451C>T, XM_005263514.3:c.451C>T, XM_005263514.2:c.451C>T, XM_005263514.1:c.451C>T, XM_011542322.3:c.493C>T, XM_011542322.2:c.493C>T, XM_011542322.1:c.493C>T, XM_017002620.2:c.592C>T, XM_017002620.1:c.592C>T, XM_047432866.1:c.493C>T, XM_047432870.1:c.493C>T, XM_047432872.1:c.451C>T, XM_047432867.1:c.493C>T, XM_047432878.1:c.493C>T, NP_003627.1:p.Pro165Ser, NP_742128.1:p.Pro151Ser, NP_001186791.1:p.Pro198Ser, NP_001186792.1:p.Pro98Ser, NP_001186790.1:p.Pro165Ser, NP_001186789.1:p.Pro165Ser, XP_011540623.1:p.Pro165Ser, XP_005263571.1:p.Pro151Ser, XP_011540624.1:p.Pro165Ser, XP_016858109.1:p.Pro198Ser, XP_047288822.1:p.Pro165Ser, XP_047288826.1:p.Pro165Ser, XP_047288828.1:p.Pro151Ser, XP_047288823.1:p.Pro165Ser, XP_047288834.1:p.Pro165Ser

Select item 14707353808.

rs1470735380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:6085241 (GRCh38)
1:6145301 (GRCh37)
Canonical SPDI:: NC_000001.11:6085240:G:C
Gene:: KCNAB2 (Varview), LOC124903831 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.6085241G>C, NC_000001.10:g.6145301G>C, NG_047091.1:g.97944G>C, NM_003636.4:c.319G>C, NM_003636.3:c.319G>C, NM_172130.3:c.277G>C, NM_172130.2:c.277G>C, NM_001199862.2:c.418G>C, NM_001199862.1:c.418G>C, NM_001199863.2:c.118G>C, NM_001199863.1:c.118G>C, NM_001199861.2:c.319G>C, NM_001199861.1:c.319G>C, NM_001199860.2:c.319G>C, NM_001199860.1:c.319G>C, XM_011542321.4:c.319G>C, XM_011542321.3:c.319G>C, XM_011542321.2:c.319G>C, XM_011542321.1:c.319G>C, XM_005263514.4:c.277G>C, XM_005263514.3:c.277G>C, XM_005263514.2:c.277G>C, XM_005263514.1:c.277G>C, XM_011542322.3:c.319G>C, XM_011542322.2:c.319G>C, XM_011542322.1:c.319G>C, XM_017002620.2:c.418G>C, XM_017002620.1:c.418G>C, XM_047432866.1:c.319G>C, XM_047432870.1:c.319G>C, XM_047432872.1:c.277G>C, XM_047432867.1:c.319G>C, XM_047432878.1:c.319G>C, NP_003627.1:p.Gly107Arg, NP_742128.1:p.Gly93Arg, NP_001186791.1:p.Gly140Arg, NP_001186792.1:p.Gly40Arg, NP_001186790.1:p.Gly107Arg, NP_001186789.1:p.Gly107Arg, XP_011540623.1:p.Gly107Arg, XP_005263571.1:p.Gly93Arg, XP_011540624.1:p.Gly107Arg, XP_016858109.1:p.Gly140Arg, XP_047288822.1:p.Gly107Arg, XP_047288826.1:p.Gly107Arg, XP_047288828.1:p.Gly93Arg, XP_047288823.1:p.Gly107Arg, XP_047288834.1:p.Gly107Arg

Select item 14704058689.

rs1470405868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6087469 (GRCh38)
1:6147529 (GRCh37)
Canonical SPDI:: NC_000001.11:6087468:G:A
Gene:: KCNAB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.6087469G>A, NC_000001.10:g.6147529G>A, NG_047091.1:g.100172G>A, NM_003636.4:c.329G>A, NM_003636.3:c.329G>A, NM_172130.3:c.287G>A, NM_172130.2:c.287G>A, NM_001199862.2:c.428G>A, NM_001199862.1:c.428G>A, NM_001199863.2:c.128G>A, NM_001199863.1:c.128G>A, NM_001199861.2:c.329G>A, NM_001199861.1:c.329G>A, NM_001199860.2:c.329G>A, NM_001199860.1:c.329G>A, XM_011542321.4:c.329G>A, XM_011542321.3:c.329G>A, XM_011542321.2:c.329G>A, XM_011542321.1:c.329G>A, XM_005263514.4:c.287G>A, XM_005263514.3:c.287G>A, XM_005263514.2:c.287G>A, XM_005263514.1:c.287G>A, XM_011542322.3:c.329G>A, XM_011542322.2:c.329G>A, XM_011542322.1:c.329G>A, XM_017002620.2:c.428G>A, XM_017002620.1:c.428G>A, XM_047432866.1:c.329G>A, XM_047432870.1:c.329G>A, XM_047432872.1:c.287G>A, XM_047432867.1:c.329G>A, XM_047432878.1:c.329G>A, NP_003627.1:p.Arg110Gln, NP_742128.1:p.Arg96Gln, NP_001186791.1:p.Arg143Gln, NP_001186792.1:p.Arg43Gln, NP_001186790.1:p.Arg110Gln, NP_001186789.1:p.Arg110Gln, XP_011540623.1:p.Arg110Gln, XP_005263571.1:p.Arg96Gln, XP_011540624.1:p.Arg110Gln, XP_016858109.1:p.Arg143Gln, XP_047288822.1:p.Arg110Gln, XP_047288826.1:p.Arg110Gln, XP_047288828.1:p.Arg96Gln, XP_047288823.1:p.Arg110Gln, XP_047288834.1:p.Arg110Gln

Select item 146573846010.

rs1465738460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6095561 (GRCh38)
1:6155621 (GRCh37)
Canonical SPDI:: NC_000001.11:6095560:C:T
Gene:: KCNAB2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.6095561C>T, NC_000001.10:g.6155621C>T, NG_047091.1:g.108264C>T, NM_003636.4:c.741C>T, NM_003636.3:c.741C>T, NM_172130.3:c.699C>T, NM_172130.2:c.699C>T, NM_001199862.2:c.885C>T, NM_001199862.1:c.885C>T, NM_001199863.2:c.540C>T, NM_001199863.1:c.540C>T, NM_001199861.2:c.741C>T, NM_001199861.1:c.741C>T, NM_001199860.2:c.741C>T, NM_001199860.1:c.741C>T, XM_011542321.4:c.741C>T, XM_011542321.3:c.741C>T, XM_011542321.2:c.741C>T, XM_011542321.1:c.741C>T, XM_005263514.4:c.699C>T, XM_005263514.3:c.699C>T, XM_005263514.2:c.699C>T, XM_005263514.1:c.699C>T, XM_011542322.3:c.741C>T, XM_011542322.2:c.741C>T, XM_011542322.1:c.741C>T, XM_017002620.2:c.840C>T, XM_017002620.1:c.840C>T, XM_047432866.1:c.741C>T, XM_047432870.1:c.741C>T, XM_047432872.1:c.699C>T, XM_047432867.1:c.741C>T

Select item 146151375111.

rs1461513751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6097294 (GRCh38)
1:6157354 (GRCh37)
Canonical SPDI:: NC_000001.11:6097293:C:T
Gene:: KCNAB2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6097294C>T, NC_000001.10:g.6157354C>T, NG_047091.1:g.109997C>T, NM_003636.4:c.951C>T, NM_003636.3:c.951C>T, NM_172130.3:c.909C>T, NM_172130.2:c.909C>T, NM_001199862.2:c.1095C>T, NM_001199862.1:c.1095C>T, NM_001199863.2:c.750C>T, NM_001199863.1:c.750C>T, NM_001199861.2:c.951C>T, NM_001199861.1:c.951C>T, NM_001199860.2:c.951C>T, NM_001199860.1:c.951C>T, XM_011542321.4:c.951C>T, XM_011542321.3:c.951C>T, XM_011542321.2:c.951C>T, XM_011542321.1:c.951C>T, XM_005263514.4:c.909C>T, XM_005263514.3:c.909C>T, XM_005263514.2:c.909C>T, XM_005263514.1:c.909C>T, XM_011542322.3:c.951C>T, XM_011542322.2:c.951C>T, XM_011542322.1:c.951C>T, XM_017002620.2:c.1050C>T, XM_017002620.1:c.1050C>T, XM_047432866.1:c.951C>T, XM_047432870.1:c.951C>T, XM_047432872.1:c.909C>T, XM_047432867.1:c.951C>T

Select item 145994509812.

rs1459945098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:6087477 (GRCh38)
1:6147537 (GRCh37)
Canonical SPDI:: NC_000001.11:6087476:C:G
Gene:: KCNAB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.6087477C>G, NC_000001.10:g.6147537C>G, NG_047091.1:g.100180C>G, NM_003636.4:c.337C>G, NM_003636.3:c.337C>G, NM_172130.3:c.295C>G, NM_172130.2:c.295C>G, NM_001199862.2:c.436C>G, NM_001199862.1:c.436C>G, NM_001199863.2:c.136C>G, NM_001199863.1:c.136C>G, NM_001199861.2:c.337C>G, NM_001199861.1:c.337C>G, NM_001199860.2:c.337C>G, NM_001199860.1:c.337C>G, XM_011542321.4:c.337C>G, XM_011542321.3:c.337C>G, XM_011542321.2:c.337C>G, XM_011542321.1:c.337C>G, XM_005263514.4:c.295C>G, XM_005263514.3:c.295C>G, XM_005263514.2:c.295C>G, XM_005263514.1:c.295C>G, XM_011542322.3:c.337C>G, XM_011542322.2:c.337C>G, XM_011542322.1:c.337C>G, XM_017002620.2:c.436C>G, XM_017002620.1:c.436C>G, XM_047432866.1:c.337C>G, XM_047432870.1:c.337C>G, XM_047432872.1:c.295C>G, XM_047432867.1:c.337C>G, XM_047432878.1:c.337C>G, NP_003627.1:p.Leu113Val, NP_742128.1:p.Leu99Val, NP_001186791.1:p.Leu146Val, NP_001186792.1:p.Leu46Val, NP_001186790.1:p.Leu113Val, NP_001186789.1:p.Leu113Val, XP_011540623.1:p.Leu113Val, XP_005263571.1:p.Leu99Val, XP_011540624.1:p.Leu113Val, XP_016858109.1:p.Leu146Val, XP_047288822.1:p.Leu113Val, XP_047288826.1:p.Leu113Val, XP_047288828.1:p.Leu99Val, XP_047288823.1:p.Leu113Val, XP_047288834.1:p.Leu113Val

Select item 145446340013.

rs1454463400 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:6095366 (GRCh38)
1:6155426 (GRCh37)
Canonical SPDI:: NC_000001.11:6095365:T:C
Gene:: KCNAB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.6095366T>C, NC_000001.10:g.6155426T>C, NG_047091.1:g.108069T>C, NM_003636.4:c.632T>C, NM_003636.3:c.632T>C, NM_172130.3:c.590T>C, NM_172130.2:c.590T>C, NM_001199862.2:c.776T>C, NM_001199862.1:c.776T>C, NM_001199863.2:c.431T>C, NM_001199863.1:c.431T>C, NM_001199861.2:c.632T>C, NM_001199861.1:c.632T>C, NM_001199860.2:c.632T>C, NM_001199860.1:c.632T>C, XM_011542321.4:c.632T>C, XM_011542321.3:c.632T>C, XM_011542321.2:c.632T>C, XM_011542321.1:c.632T>C, XM_005263514.4:c.590T>C, XM_005263514.3:c.590T>C, XM_005263514.2:c.590T>C, XM_005263514.1:c.590T>C, XM_011542322.3:c.632T>C, XM_011542322.2:c.632T>C, XM_011542322.1:c.632T>C, XM_017002620.2:c.731T>C, XM_017002620.1:c.731T>C, XM_047432866.1:c.632T>C, XM_047432870.1:c.632T>C, XM_047432872.1:c.590T>C, XM_047432867.1:c.632T>C, NP_003627.1:p.Ile211Thr, NP_742128.1:p.Ile197Thr, NP_001186791.1:p.Ile259Thr, NP_001186792.1:p.Ile144Thr, NP_001186790.1:p.Ile211Thr, NP_001186789.1:p.Ile211Thr, XP_011540623.1:p.Ile211Thr, XP_005263571.1:p.Ile197Thr, XP_011540624.1:p.Ile211Thr, XP_016858109.1:p.Ile244Thr, XP_047288822.1:p.Ile211Thr, XP_047288826.1:p.Ile211Thr, XP_047288828.1:p.Ile197Thr, XP_047288823.1:p.Ile211Thr

Select item 145093761614.

rs1450937616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:6098523 (GRCh38)
1:6158583 (GRCh37)
Canonical SPDI:: NC_000001.11:6098522:T:A,NC_000001.11:6098522:T:C
Gene:: KCNAB2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.6098523T>A, NC_000001.11:g.6098523T>C, NC_000001.10:g.6158583T>A, NC_000001.10:g.6158583T>C, NG_047091.1:g.111226T>A, NG_047091.1:g.111226T>C, NM_003636.4:c.1053T>A, NM_003636.4:c.1053T>C, NM_003636.3:c.1053T>A, NM_003636.3:c.1053T>C, NM_172130.3:c.1011T>A, NM_172130.3:c.1011T>C, NM_172130.2:c.1011T>A, NM_172130.2:c.1011T>C, NM_001199862.2:c.1197T>A, NM_001199862.2:c.1197T>C, NM_001199862.1:c.1197T>A, NM_001199862.1:c.1197T>C, NM_001199863.2:c.852T>A, NM_001199863.2:c.852T>C, NM_001199863.1:c.852T>A, NM_001199863.1:c.852T>C, NM_001199861.2:c.1053T>A, NM_001199861.2:c.1053T>C, NM_001199861.1:c.1053T>A, NM_001199861.1:c.1053T>C, NM_001199860.2:c.1053T>A, NM_001199860.2:c.1053T>C, NM_001199860.1:c.1053T>A, NM_001199860.1:c.1053T>C, XM_011542321.4:c.*63T>A, XM_011542321.4:c.*63T>C, XM_011542321.3:c.*63T>A, XM_011542321.3:c.*63T>C, XM_011542321.2:c.*63T>A, XM_011542321.2:c.*63T>C, XM_011542321.1:c.*63T>A, XM_011542321.1:c.*63T>C, XM_005263514.4:c.1011T>A, XM_005263514.4:c.1011T>C, XM_005263514.3:c.1011T>A, XM_005263514.3:c.1011T>C, XM_005263514.2:c.1011T>A, XM_005263514.2:c.1011T>C, XM_005263514.1:c.1011T>A, XM_005263514.1:c.1011T>C, XM_011542322.3:c.*63T>A, XM_011542322.3:c.*63T>C, XM_011542322.2:c.*63T>A, XM_011542322.2:c.*63T>C, XM_011542322.1:c.*63T>A, XM_011542322.1:c.*63T>C, XM_017002620.2:c.1152T>A, XM_017002620.2:c.1152T>C, XM_017002620.1:c.1152T>A, XM_017002620.1:c.1152T>C, XM_047432866.1:c.*63T>A, XM_047432866.1:c.*63T>C, XM_047432870.1:c.1053T>A, XM_047432870.1:c.1053T>C, XM_047432872.1:c.1011T>A, XM_047432872.1:c.1011T>C, XM_047432867.1:c.1053T>A, XM_047432867.1:c.1053T>C

Select item 145085688315.

rs1450856883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:6097306 (GRCh38)
1:6157366 (GRCh37)
Canonical SPDI:: NC_000001.11:6097305:C:G
Gene:: KCNAB2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.6097306C>G, NC_000001.10:g.6157366C>G, NG_047091.1:g.110009C>G, NM_003636.4:c.963C>G, NM_003636.3:c.963C>G, NM_172130.3:c.921C>G, NM_172130.2:c.921C>G, NM_001199862.2:c.1107C>G, NM_001199862.1:c.1107C>G, NM_001199863.2:c.762C>G, NM_001199863.1:c.762C>G, NM_001199861.2:c.963C>G, NM_001199861.1:c.963C>G, NM_001199860.2:c.963C>G, NM_001199860.1:c.963C>G, XM_011542321.4:c.963C>G, XM_011542321.3:c.963C>G, XM_011542321.2:c.963C>G, XM_011542321.1:c.963C>G, XM_005263514.4:c.921C>G, XM_005263514.3:c.921C>G, XM_005263514.2:c.921C>G, XM_005263514.1:c.921C>G, XM_011542322.3:c.963C>G, XM_011542322.2:c.963C>G, XM_011542322.1:c.963C>G, XM_017002620.2:c.1062C>G, XM_017002620.1:c.1062C>G, XM_047432866.1:c.963C>G, XM_047432870.1:c.963C>G, XM_047432872.1:c.921C>G, XM_047432867.1:c.963C>G

Select item 144930626916.

rs1449306269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6095436 (GRCh38)
1:6155496 (GRCh37)
Canonical SPDI:: NC_000001.11:6095435:C:T
Gene:: KCNAB2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.6095436C>T, NC_000001.10:g.6155496C>T, NG_047091.1:g.108139C>T, NM_003636.4:c.702C>T, NM_003636.3:c.702C>T, NM_172130.3:c.660C>T, NM_172130.2:c.660C>T, NM_001199862.2:c.846C>T, NM_001199862.1:c.846C>T, NM_001199863.2:c.501C>T, NM_001199863.1:c.501C>T, NM_001199861.2:c.702C>T, NM_001199861.1:c.702C>T, NM_001199860.2:c.702C>T, NM_001199860.1:c.702C>T, XM_011542321.4:c.702C>T, XM_011542321.3:c.702C>T, XM_011542321.2:c.702C>T, XM_011542321.1:c.702C>T, XM_005263514.4:c.660C>T, XM_005263514.3:c.660C>T, XM_005263514.2:c.660C>T, XM_005263514.1:c.660C>T, XM_011542322.3:c.702C>T, XM_011542322.2:c.702C>T, XM_011542322.1:c.702C>T, XM_017002620.2:c.801C>T, XM_017002620.1:c.801C>T, XM_047432866.1:c.702C>T, XM_047432870.1:c.702C>T, XM_047432872.1:c.660C>T, XM_047432867.1:c.702C>T

Select item 144312567517.

rs1443125675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6089010 (GRCh38)
1:6149070 (GRCh37)
Canonical SPDI:: NC_000001.11:6089009:C:T
Gene:: KCNAB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000013/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.6089010C>T, NC_000001.10:g.6149070C>T, NG_047091.1:g.101713C>T, NM_003636.4:c.374C>T, NM_003636.3:c.374C>T, NM_172130.3:c.332C>T, NM_172130.2:c.332C>T, NM_001199862.2:c.473C>T, NM_001199862.1:c.473C>T, NM_001199863.2:c.173C>T, NM_001199863.1:c.173C>T, NM_001199861.2:c.374C>T, NM_001199861.1:c.374C>T, NM_001199860.2:c.374C>T, NM_001199860.1:c.374C>T, XM_011542321.4:c.374C>T, XM_011542321.3:c.374C>T, XM_011542321.2:c.374C>T, XM_011542321.1:c.374C>T, XM_005263514.4:c.332C>T, XM_005263514.3:c.332C>T, XM_005263514.2:c.332C>T, XM_005263514.1:c.332C>T, XM_011542322.3:c.374C>T, XM_011542322.2:c.374C>T, XM_011542322.1:c.374C>T, XM_017002620.2:c.473C>T, XM_017002620.1:c.473C>T, XM_047432866.1:c.374C>T, XM_047432870.1:c.374C>T, XM_047432872.1:c.332C>T, XM_047432867.1:c.374C>T, XM_047432878.1:c.374C>T, NP_003627.1:p.Ala125Val, NP_742128.1:p.Ala111Val, NP_001186791.1:p.Ala158Val, NP_001186792.1:p.Ala58Val, NP_001186790.1:p.Ala125Val, NP_001186789.1:p.Ala125Val, XP_011540623.1:p.Ala125Val, XP_005263571.1:p.Ala111Val, XP_011540624.1:p.Ala125Val, XP_016858109.1:p.Ala158Val, XP_047288822.1:p.Ala125Val, XP_047288826.1:p.Ala125Val, XP_047288828.1:p.Ala111Val, XP_047288823.1:p.Ala125Val, XP_047288834.1:p.Ala125Val

Select item 144224703718.

rs1442247037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:6089029 (GRCh38)
1:6149089 (GRCh37)
Canonical SPDI:: NC_000001.11:6089028:G:A,NC_000001.11:6089028:G:C
Gene:: KCNAB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000142/2 (TOMMO)
HGVS:: NC_000001.11:g.6089029G>A, NC_000001.11:g.6089029G>C, NC_000001.10:g.6149089G>A, NC_000001.10:g.6149089G>C, NG_047091.1:g.101732G>A, NG_047091.1:g.101732G>C, NM_003636.4:c.393G>A, NM_003636.4:c.393G>C, NM_003636.3:c.393G>A, NM_003636.3:c.393G>C, NM_172130.3:c.351G>A, NM_172130.3:c.351G>C, NM_172130.2:c.351G>A, NM_172130.2:c.351G>C, NM_001199862.2:c.492G>A, NM_001199862.2:c.492G>C, NM_001199862.1:c.492G>A, NM_001199862.1:c.492G>C, NM_001199863.2:c.192G>A, NM_001199863.2:c.192G>C, NM_001199863.1:c.192G>A, NM_001199863.1:c.192G>C, NM_001199861.2:c.393G>A, NM_001199861.2:c.393G>C, NM_001199861.1:c.393G>A, NM_001199861.1:c.393G>C, NM_001199860.2:c.393G>A, NM_001199860.2:c.393G>C, NM_001199860.1:c.393G>A, NM_001199860.1:c.393G>C, XM_011542321.4:c.393G>A, XM_011542321.4:c.393G>C, XM_011542321.3:c.393G>A, XM_011542321.3:c.393G>C, XM_011542321.2:c.393G>A, XM_011542321.2:c.393G>C, XM_011542321.1:c.393G>A, XM_011542321.1:c.393G>C, XM_005263514.4:c.351G>A, XM_005263514.4:c.351G>C, XM_005263514.3:c.351G>A, XM_005263514.3:c.351G>C, XM_005263514.2:c.351G>A, XM_005263514.2:c.351G>C, XM_005263514.1:c.351G>A, XM_005263514.1:c.351G>C, XM_011542322.3:c.393G>A, XM_011542322.3:c.393G>C, XM_011542322.2:c.393G>A, XM_011542322.2:c.393G>C, XM_011542322.1:c.393G>A, XM_011542322.1:c.393G>C, XM_017002620.2:c.492G>A, XM_017002620.2:c.492G>C, XM_017002620.1:c.492G>A, XM_017002620.1:c.492G>C, XM_047432866.1:c.393G>A, XM_047432866.1:c.393G>C, XM_047432870.1:c.393G>A, XM_047432870.1:c.393G>C, XM_047432872.1:c.351G>A, XM_047432872.1:c.351G>C, XM_047432867.1:c.393G>A, XM_047432867.1:c.393G>C, XM_047432878.1:c.393G>A, XM_047432878.1:c.393G>C

Select item 143688064119.

rs1436880641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:6082258 (GRCh38)
1:6142318 (GRCh37)
Canonical SPDI:: NC_000001.11:6082257:G:C
Gene:: KCNAB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6082258G>C, NC_000001.10:g.6142318G>C, NG_047091.1:g.94961G>C, NM_003636.4:c.265G>C, NM_003636.3:c.265G>C, NM_172130.3:c.223G>C, NM_172130.2:c.223G>C, NM_001199862.2:c.364G>C, NM_001199862.1:c.364G>C, NM_001199863.2:c.64G>C, NM_001199863.1:c.64G>C, NM_001199861.2:c.265G>C, NM_001199861.1:c.265G>C, NM_001199860.2:c.265G>C, NM_001199860.1:c.265G>C, XM_011542321.4:c.265G>C, XM_011542321.3:c.265G>C, XM_011542321.2:c.265G>C, XM_011542321.1:c.265G>C, XM_005263514.4:c.223G>C, XM_005263514.3:c.223G>C, XM_005263514.2:c.223G>C, XM_005263514.1:c.223G>C, XM_011542322.3:c.265G>C, XM_011542322.2:c.265G>C, XM_011542322.1:c.265G>C, XM_017002620.2:c.364G>C, XM_017002620.1:c.364G>C, XM_047432866.1:c.265G>C, XM_047432870.1:c.265G>C, XM_047432872.1:c.223G>C, XM_047432867.1:c.265G>C, XM_047432878.1:c.265G>C, NP_003627.1:p.Val89Leu, NP_742128.1:p.Val75Leu, NP_001186791.1:p.Val122Leu, NP_001186792.1:p.Val22Leu, NP_001186790.1:p.Val89Leu, NP_001186789.1:p.Val89Leu, XP_011540623.1:p.Val89Leu, XP_005263571.1:p.Val75Leu, XP_011540624.1:p.Val89Leu, XP_016858109.1:p.Val122Leu, XP_047288822.1:p.Val89Leu, XP_047288826.1:p.Val89Leu, XP_047288828.1:p.Val75Leu, XP_047288823.1:p.Val89Leu, XP_047288834.1:p.Val89Leu

Select item 143364381320.

rs1433643813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6087467 (GRCh38)
1:6147527 (GRCh37)
Canonical SPDI:: NC_000001.11:6087466:G:A
Gene:: KCNAB2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6087467G>A, NC_000001.10:g.6147527G>A, NG_047091.1:g.100170G>A, NM_003636.4:c.327G>A, NM_003636.3:c.327G>A, NM_172130.3:c.285G>A, NM_172130.2:c.285G>A, NM_001199862.2:c.426G>A, NM_001199862.1:c.426G>A, NM_001199863.2:c.126G>A, NM_001199863.1:c.126G>A, NM_001199861.2:c.327G>A, NM_001199861.1:c.327G>A, NM_001199860.2:c.327G>A, NM_001199860.1:c.327G>A, XM_011542321.4:c.327G>A, XM_011542321.3:c.327G>A, XM_011542321.2:c.327G>A, XM_011542321.1:c.327G>A, XM_005263514.4:c.285G>A, XM_005263514.3:c.285G>A, XM_005263514.2:c.285G>A, XM_005263514.1:c.285G>A, XM_011542322.3:c.327G>A, XM_011542322.2:c.327G>A, XM_011542322.1:c.327G>A, XM_017002620.2:c.426G>A, XM_017002620.1:c.426G>A, XM_047432866.1:c.327G>A, XM_047432870.1:c.327G>A, XM_047432872.1:c.285G>A, XM_047432867.1:c.327G>A, XM_047432878.1:c.327G>A

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