SNP Links for Protein (Select 156071470) - SNP

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Links from Protein

Items: 1 to 20 of 1057

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Select item 14909089381.

rs1490908938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:616038 (GRCh38)
19:616038 (GRCh37)
Canonical SPDI:: NC_000019.10:616037:C:A,NC_000019.10:616037:C:T
Gene:: HCN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.616038C>A, NC_000019.10:g.616038C>T, NC_000019.9:g.616038C>A, NC_000019.9:g.616038C>T, NG_052810.1:g.31146C>A, NG_052810.1:g.31146C>T, NM_001194.4:c.2234C>A, NM_001194.4:c.2234C>T, NM_001194.3:c.2234C>A, NM_001194.3:c.2234C>T, NG_023049.1:g.22531G>T, NG_023049.1:g.22531G>A, NP_001185.3:p.Pro745Gln, NP_001185.3:p.Pro745Leu

Select item 14902112232.

rs1490211223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:590116 (GRCh38)
19:590116 (GRCh37)
Canonical SPDI:: NC_000019.10:590115:G:A
Gene:: HCN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000016/2 (GnomAD)
HGVS:: NC_000019.10:g.590116G>A, NC_000019.9:g.590116G>A, NG_052810.1:g.5224G>A, NM_001194.4:c.171G>A, NM_001194.3:c.171G>A

Select item 14897533893.

rs1489753389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:590134 (GRCh38)
19:590134 (GRCh37)
Canonical SPDI:: NC_000019.10:590133:G:A
Gene:: HCN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000077/10 (GnomAD)
HGVS:: NC_000019.10:g.590134G>A, NC_000019.9:g.590134G>A, NG_052810.1:g.5242G>A, NM_001194.4:c.189G>A, NM_001194.3:c.189G>A

Select item 14895421944.

rs1489542194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:613998 (GRCh38)
19:613998 (GRCh37)
Canonical SPDI:: NC_000019.10:613997:G:A
Gene:: HCN2 (Varview), LOC107987266 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.613998G>A, NC_000019.9:g.613998G>A, NG_052810.1:g.29106G>A, NM_001194.4:c.1972G>A, NM_001194.3:c.1972G>A, NP_001185.3:p.Asp658Asn

Select item 14889006805.

rs1488900680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:590200 (GRCh38)
19:590200 (GRCh37)
Canonical SPDI:: NC_000019.10:590199:C:T
Gene:: HCN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.590200C>T, NC_000019.9:g.590200C>T, NG_052810.1:g.5308C>T, NM_001194.4:c.255C>T, NM_001194.3:c.255C>T

Select item 14880883266.

rs1488088326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:613361 (GRCh38)
19:613361 (GRCh37)
Canonical SPDI:: NC_000019.10:613360:G:A
Gene:: HCN2 (Varview), LOC107987266 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.613361G>A, NC_000019.9:g.613361G>A, NG_052810.1:g.28469G>A, NM_001194.4:c.1698G>A, NM_001194.3:c.1698G>A, XR_001753828.2:n.113C>T

Select item 14860257637.

rs1486025763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:590185 (GRCh38)
19:590185 (GRCh37)
Canonical SPDI:: NC_000019.10:590184:C:A,NC_000019.10:590184:C:G
Gene:: HCN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.590185C>A, NC_000019.10:g.590185C>G, NC_000019.9:g.590185C>A, NC_000019.9:g.590185C>G, NG_052810.1:g.5293C>A, NG_052810.1:g.5293C>G, NM_001194.4:c.240C>A, NM_001194.4:c.240C>G, NM_001194.3:c.240C>A, NM_001194.3:c.240C>G, NP_001185.3:p.Ser80Arg, NP_001185.3:p.Ser80Arg

Select item 14858071818.

rs1485807181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:616311 (GRCh38)
19:616311 (GRCh37)
Canonical SPDI:: NC_000019.10:616310:C:A,NC_000019.10:616310:C:T
Gene:: HCN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000015/2 (GnomAD)
HGVS:: NC_000019.10:g.616311C>A, NC_000019.10:g.616311C>T, NC_000019.9:g.616311C>A, NC_000019.9:g.616311C>T, NG_052810.1:g.31419C>A, NG_052810.1:g.31419C>T, NM_001194.4:c.2507C>A, NM_001194.4:c.2507C>T, NM_001194.3:c.2507C>A, NM_001194.3:c.2507C>T, NG_023049.1:g.22258G>T, NG_023049.1:g.22258G>A, NP_001185.3:p.Ala836Asp, NP_001185.3:p.Ala836Val

Select item 14854807489.

rs1485480748 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:590033 (GRCh38)
19:590033 (GRCh37)
Canonical SPDI:: NC_000019.10:590032:CCCCCCC:CCCCCC
Gene:: HCN2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.590039del, NC_000019.9:g.590039del, NG_052810.1:g.5147del, NM_001194.4:c.94del, NM_001194.3:c.94del, NP_001185.3:p.Gln32fs

Select item 148407573310.

rs1484075733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:616204 (GRCh38)
19:616204 (GRCh37)
Canonical SPDI:: NC_000019.10:616203:C:T
Gene:: HCN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.616204C>T, NC_000019.9:g.616204C>T, NG_052810.1:g.31312C>T, NM_001194.4:c.2400C>T, NM_001194.3:c.2400C>T, NG_023049.1:g.22365G>A

Select item 148381856311.

rs1483818563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 19:613413 (GRCh38)
19:613413 (GRCh37)
Canonical SPDI:: NC_000019.10:613412:A:C,NC_000019.10:613412:A:T
Gene:: HCN2 (Varview), LOC107987266 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.613413A>C, NC_000019.10:g.613413A>T, NC_000019.9:g.613413A>C, NC_000019.9:g.613413A>T, NG_052810.1:g.28521A>C, NG_052810.1:g.28521A>T, NM_001194.4:c.1750A>C, NM_001194.4:c.1750A>T, NM_001194.3:c.1750A>C, NM_001194.3:c.1750A>T, XR_001753828.2:n.61T>G, XR_001753828.2:n.61T>A, NP_001185.3:p.Ile584Leu, NP_001185.3:p.Ile584Phe

Select item 148310445812.

rs1483104458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:590479 (GRCh38)
19:590479 (GRCh37)
Canonical SPDI:: NC_000019.10:590478:C:A
Gene:: HCN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.590479C>A, NC_000019.9:g.590479C>A, NG_052810.1:g.5587C>A, NM_001194.4:c.534C>A, NM_001194.3:c.534C>A, NG_024140.1:g.1237G>T, NP_001185.3:p.Phe178Leu

Select item 148297911413.

rs1482979114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:616106 (GRCh38)
19:616106 (GRCh37)
Canonical SPDI:: NC_000019.10:616105:G:A
Gene:: HCN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000024/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.616106G>A, NC_000019.9:g.616106G>A, NG_052810.1:g.31214G>A, NM_001194.4:c.2302G>A, NM_001194.3:c.2302G>A, NG_023049.1:g.22463C>T, NP_001185.3:p.Ala768Thr

Select item 148174528114.

rs1481745281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:589982 (GRCh38)
19:589982 (GRCh37)
Canonical SPDI:: NC_000019.10:589981:A:G
Gene:: HCN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000009/1 (GnomAD)
HGVS:: NC_000019.10:g.589982A>G, NC_000019.9:g.589982A>G, NG_052810.1:g.5090A>G, NM_001194.4:c.37A>G, NM_001194.3:c.37A>G, NP_001185.3:p.Ser13Gly

Select item 148036299715.

rs1480362997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:616092 (GRCh38)
19:616092 (GRCh37)
Canonical SPDI:: NC_000019.10:616091:C:A,NC_000019.10:616091:C:T
Gene:: HCN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.616092C>A, NC_000019.10:g.616092C>T, NC_000019.9:g.616092C>A, NC_000019.9:g.616092C>T, NG_052810.1:g.31200C>A, NG_052810.1:g.31200C>T, NM_001194.4:c.2288C>A, NM_001194.4:c.2288C>T, NM_001194.3:c.2288C>A, NM_001194.3:c.2288C>T, NG_023049.1:g.22477G>T, NG_023049.1:g.22477G>A, NP_001185.3:p.Pro763Gln, NP_001185.3:p.Pro763Leu

Select item 147974243716.

rs1479742437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:616042 (GRCh38)
19:616042 (GRCh37)
Canonical SPDI:: NC_000019.10:616041:C:G,NC_000019.10:616041:C:T
Gene:: HCN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000019.10:g.616042C>G, NC_000019.10:g.616042C>T, NC_000019.9:g.616042C>G, NC_000019.9:g.616042C>T, NG_052810.1:g.31150C>G, NG_052810.1:g.31150C>T, NM_001194.4:c.2238C>G, NM_001194.4:c.2238C>T, NM_001194.3:c.2238C>G, NM_001194.3:c.2238C>T, NG_023049.1:g.22527G>C, NG_023049.1:g.22527G>A

Select item 147966382817.

rs1479663828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:589954 (GRCh38)
19:589954 (GRCh37)
Canonical SPDI:: NC_000019.10:589953:G:C
Gene:: HCN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00121/17 (ALFA)
C=0.000625/4 (1000Genomes)
C=0.000692/82 (GnomAD)
C=0.000722/191 (TOPMED)
HGVS:: NC_000019.10:g.589954G>C, NC_000019.9:g.589954G>C, NG_052810.1:g.5062G>C, NM_001194.4:c.9G>C, NM_001194.3:c.9G>C

Select item 147618038818.

rs1476180388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:616410 (GRCh38)
19:616410 (GRCh37)
Canonical SPDI:: NC_000019.10:616409:C:A,NC_000019.10:616409:C:T
Gene:: HCN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.616410C>A, NC_000019.10:g.616410C>T, NC_000019.9:g.616410C>A, NC_000019.9:g.616410C>T, NG_052810.1:g.31518C>A, NG_052810.1:g.31518C>T, NM_001194.4:c.2606C>A, NM_001194.4:c.2606C>T, NM_001194.3:c.2606C>A, NM_001194.3:c.2606C>T, NG_023049.1:g.22159G>T, NG_023049.1:g.22159G>A, NP_001185.3:p.Pro869His, NP_001185.3:p.Pro869Leu

Select item 147612839019.

rs1476128390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:616157 (GRCh38)
19:616157 (GRCh37)
Canonical SPDI:: NC_000019.10:616156:G:A,NC_000019.10:616156:G:C
Gene:: HCN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.00006/5 (GnomAD)
HGVS:: NC_000019.10:g.616157G>A, NC_000019.10:g.616157G>C, NC_000019.9:g.616157G>A, NC_000019.9:g.616157G>C, NG_052810.1:g.31265G>A, NG_052810.1:g.31265G>C, NM_001194.4:c.2353G>A, NM_001194.4:c.2353G>C, NM_001194.3:c.2353G>A, NM_001194.3:c.2353G>C, NG_023049.1:g.22412C>T, NG_023049.1:g.22412C>G, NP_001185.3:p.Ala785Thr, NP_001185.3:p.Ala785Pro

Select item 147610997120.

rs1476109971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:613468 (GRCh38)
19:613468 (GRCh37)
Canonical SPDI:: NC_000019.10:613467:C:T
Gene:: HCN2 (Varview), LOC107987266 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.613468C>T, NC_000019.9:g.613468C>T, NG_052810.1:g.28576C>T, NM_001194.4:c.1805C>T, NM_001194.3:c.1805C>T, XR_001753828.2:n.6G>A, NP_001185.3:p.Ser602Phe

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