Canonical Allele Identifier: CA2581677792
Gene: ATP1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139998C>A , CM000663.2:g.160139998C>A GRCh38
NC_000001.10:g.160109788C>A , CM000663.1:g.160109788C>A GRCh37
NC_000001.9:g.158376412C>A NCBI36
NG_008014.1:g.29241C>A , LRG_6:g.29241C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.3034+14C>A MANE Select ENSP00000354490.3:n.3034+14C>A
ENST00000361216.7:c.3034+14C>A ENSP00000354490.3:n.3034+14C>A
ENST00000392233.7:c.3001+14C>A ENSP00000376066.3:n.3001+14C>A
ENST00000447527.1:c.2115+14C>A
ENST00000459972.1:n.26+14C>A
ENST00000463989.1:n.384C>A
NM_000702.3:c.3034+14C>A NP_000693.1:n.3034+14C>A
NM_000702.4:c.3034+14C>A MANE Select NP_000693.1:n.3034+14C>A
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