Canonical Allele Identifier: CA1194915
Gene: ATP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs749010449
ExAC: 1:160109786 C / T
gnomAD v2: 1-160109786-C-T
gnomAD v3: 1-160139996-C-T
gnomAD v4: 1-160139996-C-T
MyVariant Identifiers: chr1:g.160109786C>T (hg19) chr1:g.160139996C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139996C>T , CM000663.2:g.160139996C>T GRCh38
NC_000001.10:g.160109786C>T , CM000663.1:g.160109786C>T GRCh37
NC_000001.9:g.158376410C>T NCBI36
NG_008014.1:g.29239C>T , LRG_6:g.29239C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.3034+12C>T MANE Select ENSP00000354490.3:n.3034+12C>T
ENST00000361216.7:c.3034+12C>T ENSP00000354490.3:n.3034+12C>T
ENST00000392233.7:c.3001+12C>T ENSP00000376066.3:n.3001+12C>T
ENST00000447527.1:c.2115+12C>T
ENST00000459972.1:n.26+12C>T
ENST00000463989.1:n.382C>T
NM_000702.3:c.3034+12C>T NP_000693.1:n.3034+12C>T
NM_000702.4:c.3034+12C>T MANE Select NP_000693.1:n.3034+12C>T
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