Canonical Allele Identifier: CA1194855
Gene: ATP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs748988488
ExAC: 1:160109383 C / T
gnomAD v2: 1-160109383-C-T
gnomAD v3: 1-160139593-C-T
gnomAD v4: 1-160139593-C-T
MyVariant Identifiers: chr1:g.160109383C>T (hg19) chr1:g.160139593C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139593C>T , CM000663.2:g.160139593C>T GRCh38
NC_000001.10:g.160109383C>T , CM000663.1:g.160109383C>T GRCh37
NC_000001.9:g.158376007C>T NCBI36
NG_008014.1:g.28836C>T , LRG_6:g.28836C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.2841-47C>T MANE Select ENSP00000354490.3:n.2841-47C>T
ENST00000361216.7:c.2841-47C>T ENSP00000354490.3:n.2841-47C>T
ENST00000392233.7:c.2841-47C>T ENSP00000376066.3:n.2841-47C>T
ENST00000447527.1:c.1922-47C>T
ENST00000463989.1:n.177-47C>T
NM_000702.3:c.2841-47C>T NP_000693.1:n.2841-47C>T
NM_000702.4:c.2841-47C>T MANE Select NP_000693.1:n.2841-47C>T
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