SNP Links for Protein (Select 7662677) - SNP

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:74774005 (GRCh38)
5:74069830 (GRCh37)
Canonical SPDI:: NC_000005.10:74774004:T:A
Gene:: NSA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.74774005T>A, NC_000005.9:g.74069830T>A, NM_014886.6:c.660T>A, NM_014886.5:c.660T>A, NM_014886.4:c.660T>A, NR_073403.2:n.881T>A, NR_073403.1:n.1139T>A, NR_157205.2:n.879T>A, NR_157205.1:n.1137T>A, NR_157206.2:n.621T>A, NR_157206.1:n.879T>A

Select item 145853293111.

rs1458532931 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:74770705 (GRCh38)
5:74066530 (GRCh37)
Canonical SPDI:: NC_000005.10:74770704:AAA:AA
Gene:: NSA2 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000019/5 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.74770707del, NC_000005.9:g.74066532del, NG_011531.1:g.1513del, NM_014886.6:c.419del, NM_014886.5:c.419del, NM_014886.4:c.419del, NR_073403.2:n.531del, NR_073403.1:n.789del, NR_157205.2:n.531del, NR_157205.1:n.789del, NR_157206.2:n.380del, NR_157206.1:n.638del, NM_001271665.2:c.419del, NM_001271665.1:c.419del, NM_001364506.2:c.419del, NM_001364506.1:c.419del, NP_055701.1:p.Lys140fs, NP_001258594.1:p.Lys140fs, NP_001351435.1:p.Lys140fs

Select item 145796917612.

rs1457969176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:74769292 (GRCh38)
5:74065117 (GRCh37)
Canonical SPDI:: NC_000005.10:74769291:G:A
Gene:: NSA2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_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_000005.10:g.74769292G>A, NC_000005.9:g.74065117G>A, NG_011531.1:g.2926C>T, NM_014886.6:c.270G>A, NM_014886.5:c.270G>A, NM_014886.4:c.270G>A, NR_073403.2:n.382G>A, NR_073403.1:n.640G>A, NR_157205.2:n.382G>A, NR_157205.1:n.640G>A, NM_001271665.2:c.270G>A, NM_001271665.1:c.270G>A, NM_001364506.2:c.270G>A, NM_001364506.1:c.270G>A

Select item 145331958713.

rs1453319587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:74773946 (GRCh38)
5:74069771 (GRCh37)
Canonical SPDI:: NC_000005.10:74773945:A:T
Gene:: NSA2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.74773946A>T, NC_000005.9:g.74069771A>T, NM_014886.6:c.601A>T, NM_014886.5:c.601A>T, NM_014886.4:c.601A>T, NR_073403.2:n.822A>T, NR_073403.1:n.1080A>T, NR_157205.2:n.820A>T, NR_157205.1:n.1078A>T, NR_157206.2:n.562A>T, NR_157206.1:n.820A>T, NP_055701.1:p.Lys201Ter

Select item 142914612914.

rs1429146129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:74773888 (GRCh38)
5:74069713 (GRCh37)
Canonical SPDI:: NC_000005.10:74773887:C:T
Gene:: NSA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.74773888C>T, NC_000005.9:g.74069713C>T, NM_014886.6:c.543C>T, NM_014886.5:c.543C>T, NM_014886.4:c.543C>T, NR_073403.2:n.764C>T, NR_073403.1:n.1022C>T, NR_157205.2:n.762C>T, NR_157205.1:n.1020C>T, NR_157206.2:n.504C>T, NR_157206.1:n.762C>T

Select item 142145766515.

rs1421457665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:74774052 (GRCh38)
5:74069877 (GRCh37)
Canonical SPDI:: NC_000005.10:74774051:T:C
Gene:: NSA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00022/1 (ALFA)
C=0.00004/1 (TOMMO)
C=0.00022/1 (Estonian)
HGVS:: NC_000005.10:g.74774052T>C, NC_000005.9:g.74069877T>C, NM_014886.6:c.707T>C, NM_014886.5:c.707T>C, NM_014886.4:c.707T>C, NR_073403.2:n.928T>C, NR_073403.1:n.1186T>C, NR_157205.2:n.926T>C, NR_157205.1:n.1184T>C, NR_157206.2:n.668T>C, NR_157206.1:n.926T>C, NP_055701.1:p.Val236Ala

Select item 141106553316.

rs1411065533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:74769278 (GRCh38)
5:74065103 (GRCh37)
Canonical SPDI:: NC_000005.10:74769277:G:A
Gene:: NSA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.74769278G>A, NC_000005.9:g.74065103G>A, NG_011531.1:g.2940C>T, NM_014886.6:c.256G>A, NM_014886.5:c.256G>A, NM_014886.4:c.256G>A, NR_073403.2:n.368G>A, NR_073403.1:n.626G>A, NR_157205.2:n.368G>A, NR_157205.1:n.626G>A, NM_001271665.2:c.256G>A, NM_001271665.1:c.256G>A, NM_001364506.2:c.256G>A, NM_001364506.1:c.256G>A, NP_055701.1:p.Val86Ile, NP_001258594.1:p.Val86Ile, NP_001351435.1:p.Val86Ile

Select item 140696536717.

rs1406965367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:74776618 (GRCh38)
5:74072443 (GRCh37)
Canonical SPDI:: NC_000005.10:74776617:G:A
Gene:: NSA2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_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_000005.10:g.74776618G>A, NC_000005.9:g.74072443G>A, NM_014886.6:c.730G>A, NM_014886.5:c.730G>A, NM_014886.4:c.730G>A, NR_073403.2:n.951G>A, NR_073403.1:n.1209G>A, NR_157205.2:n.949G>A, NR_157205.1:n.1207G>A, NR_157206.2:n.691G>A, NR_157206.1:n.949G>A, NM_001271665.2:c.537G>A, NM_001271665.1:c.537G>A, NP_055701.1:p.Val244Ile

Select item 140246630818.

rs1402466308 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:74769043 (GRCh38)
5:74064869 (GRCh37)
Canonical SPDI:: NC_000005.10:74769043:AAA:AAAA
Gene:: NSA2 (Varview), GFM2 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.74769046dup, NC_000005.9:g.74064871dup, NG_011531.1:g.3174dup, NM_014886.6:c.119dup, NM_014886.5:c.119dup, NM_014886.4:c.119dup, NR_073403.2:n.231dup, NR_073403.1:n.489dup, NR_157205.2:n.231dup, NR_157205.1:n.489dup, NR_157206.2:n.231dup, NR_157206.1:n.489dup, NM_001271665.2:c.119dup, NM_001271665.1:c.119dup, NM_001364506.2:c.119dup, NM_001364506.1:c.119dup, NP_055701.1:p.Lys41fs, NP_001258594.1:p.Lys41fs, NP_001351435.1:p.Lys41fs

Select item 140126204119.

rs1401262041 [Homo sapiens]

Variant type:: DEL
Alleles:: TCAAGAT>- [Show Flanks]
Chromosome:: 5:74769216 (GRCh38)
5:74065041 (GRCh37)
Canonical SPDI:: NC_000005.10:74769215:TCAAGAT:
Gene:: NSA2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.74769216_74769222del, NC_000005.9:g.74065041_74065047del, NG_011531.1:g.2996_3002del, NM_014886.6:c.194_200del, NM_014886.5:c.194_200del, NM_014886.4:c.194_200del, NR_073403.2:n.306_312del, NR_073403.1:n.564_570del, NR_157205.2:n.306_312del, NR_157205.1:n.564_570del, NM_001271665.2:c.194_200del, NM_001271665.1:c.194_200del, NM_001364506.2:c.194_200del, NM_001364506.1:c.194_200del, NP_055701.1:p.Ile65fs, NP_001258594.1:p.Ile65fs, NP_001351435.1:p.Ile65fs

Select item 140052680120.

rs1400526801 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:74770710 (GRCh38)
5:74066536 (GRCh37)
Canonical SPDI:: NC_000005.10:74770710:AAA:AAAA
Gene:: NSA2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.74770713dup, NC_000005.9:g.74066538dup, NG_011531.1:g.1507dup, NM_014886.6:c.425dup, NM_014886.5:c.425dup, NM_014886.4:c.425dup, NR_073403.2:n.537dup, NR_073403.1:n.795dup, NR_157205.2:n.537dup, NR_157205.1:n.795dup, NR_157206.2:n.386dup, NR_157206.1:n.644dup, NM_001271665.2:c.425dup, NM_001271665.1:c.425dup, NM_001364506.2:c.425dup, NM_001364506.1:c.425dup, NP_055701.1:p.Lys143fs, NP_001258594.1:p.Lys143fs, NP_001351435.1:p.Lys143fs

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