Canonical Allele Identifier: CA2648643938
Gene: ATP1A2 HGNC NCBI

Linked Data

gnomAD v4: 1-160139991-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139991C>T , CM000663.2:g.160139991C>T GRCh38
NC_000001.10:g.160109781C>T , CM000663.1:g.160109781C>T GRCh37
NC_000001.9:g.158376405C>T NCBI36
NG_008014.1:g.29234C>T , LRG_6:g.29234C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.3034+7C>T MANE Select ENSP00000354490.3:n.3034+7C>T
ENST00000361216.7:c.3034+7C>T ENSP00000354490.3:n.3034+7C>T
ENST00000392233.7:c.3001+7C>T ENSP00000376066.3:n.3001+7C>T
ENST00000447527.1:c.2115+7C>T
ENST00000459972.1:n.26+7C>T
ENST00000463989.1:n.377C>T
NM_000702.3:c.3034+7C>T NP_000693.1:n.3034+7C>T
NM_000702.4:c.3034+7C>T MANE Select NP_000693.1:n.3034+7C>T
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