Canonical Allele Identifier: CA343256692

Gene: ATP1A2

Linked Data

• MyVariant Identifiers: chr1:g.160109763G>C (hg19) ; chr1:g.160139973G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160139973G>C , CM000663.2:g.160139973G>C	GRCh38
NC_000001.10:g.160109763G>C , CM000663.1:g.160109763G>C	GRCh37
NC_000001.9:g.158376387G>C	NCBI36
NG_008014.1:g.29216G>C , LRG_6:g.29216G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361216.8:c.3023G>C MANE Select	ENSP00000354490.3:p.Arg1008Pro
ENST00000361216.7:c.3023G>C	ENSP00000354490.3:p.Arg1008Pro
ENST00000392233.7:c.2990G>C	ENSP00000376066.3:p.Arg997Pro
ENST00000447527.1:c.2104G>C
ENST00000459972.1:n.15G>C
ENST00000463989.1:n.359G>C
NM_000702.3:c.3023G>C	NP_000693.1:p.Arg1008Pro
NM_000702.4:c.3023G>C MANE Select	NP_000693.1:p.Arg1008Pro