Canonical Allele Identifier: CA1194860
Gene: ATP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs775082165
ExAC: 1:160109394 C / A
gnomAD v2: 1-160109394-C-A
gnomAD v4: 1-160139604-C-A
MyVariant Identifiers: chr1:g.160109394C>A (hg19) chr1:g.160139604C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139604C>A , CM000663.2:g.160139604C>A GRCh38
NC_000001.10:g.160109394C>A , CM000663.1:g.160109394C>A GRCh37
NC_000001.9:g.158376018C>A NCBI36
NG_008014.1:g.28847C>A , LRG_6:g.28847C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.2841-36C>A MANE Select ENSP00000354490.3:n.2841-36C>A
ENST00000361216.7:c.2841-36C>A ENSP00000354490.3:n.2841-36C>A
ENST00000392233.7:c.2841-36C>A ENSP00000376066.3:n.2841-36C>A
ENST00000447527.1:c.1922-36C>A
ENST00000463989.1:n.177-36C>A
NM_000702.3:c.2841-36C>A NP_000693.1:n.2841-36C>A
NM_000702.4:c.2841-36C>A MANE Select NP_000693.1:n.2841-36C>A
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