Canonical Allele Identifier: CA343256240
Gene: ATP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139923C>G , CM000663.2:g.160139923C>G GRCh38
NC_000001.10:g.160109713C>G , CM000663.1:g.160109713C>G GRCh37
NC_000001.9:g.158376337C>G NCBI36
NG_008014.1:g.29166C>G , LRG_6:g.29166C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.2973C>G MANE Select ENSP00000354490.3:p.Tyr991Ter
ENST00000361216.7:c.2973C>G ENSP00000354490.3:p.Tyr991Ter
ENST00000392233.7:c.2943-3C>G ENSP00000376066.3:n.2943-3C>G
ENST00000447527.1:c.2054C>G
ENST00000463989.1:n.309C>G
NM_000702.3:c.2973C>G NP_000693.1:p.Tyr991Ter
NM_000702.4:c.2973C>G MANE Select NP_000693.1:p.Tyr991Ter