Canonical Allele Identifier: CA343244580
Gene: ATP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130597G>T , CM000663.2:g.160130597G>T GRCh38
NC_000001.10:g.160100387G>T , CM000663.1:g.160100387G>T GRCh37
NC_000001.9:g.158367011G>T NCBI36
NG_008014.1:g.19840G>T , LRG_6:g.19840G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1827G>T MANE Select ENSP00000354490.3:p.Lys609Asn
ENST00000361216.7:c.1827G>T ENSP00000354490.3:p.Lys609Asn
ENST00000392233.7:c.1827G>T ENSP00000376066.3:p.Lys609Asn
ENST00000447527.1:c.959G>T
ENST00000472488.5:n.1930G>T
NM_000702.3:c.1827G>T NP_000693.1:p.Lys609Asn
NM_000702.4:c.1827G>T MANE Select NP_000693.1:p.Lys609Asn