Canonical Allele Identifier: CA343256555
Gene: ATP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139959G>C , CM000663.2:g.160139959G>C GRCh38
NC_000001.10:g.160109749G>C , CM000663.1:g.160109749G>C GRCh37
NC_000001.9:g.158376373G>C NCBI36
NG_008014.1:g.29202G>C , LRG_6:g.29202G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.3009G>C MANE Select ENSP00000354490.3:p.Lys1003Asn
ENST00000361216.7:c.3009G>C ENSP00000354490.3:p.Lys1003Asn
ENST00000392233.7:c.2976G>C ENSP00000376066.3:p.Lys992Asn
ENST00000447527.1:c.2090G>C
ENST00000459972.1:n.1G>C
ENST00000463989.1:n.345G>C
NM_000702.3:c.3009G>C NP_000693.1:p.Lys1003Asn
NM_000702.4:c.3009G>C MANE Select NP_000693.1:p.Lys1003Asn