Canonical Allele Identifier: CA526593909

Gene: ATP1A2

Linked Data

• dbSNP Id: rs1220364327
• gnomAD v2: 1-160109554-C-T
• MyVariant Identifiers: chr1:g.160109554C>T (hg19) ; chr1:g.160139764C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160139764C>T , CM000663.2:g.160139764C>T	GRCh38
NC_000001.10:g.160109554C>T , CM000663.1:g.160109554C>T	GRCh37
NC_000001.9:g.158376178C>T	NCBI36
NG_008014.1:g.29007C>T , LRG_6:g.29007C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361216.8:c.2942+23C>T MANE Select	ENSP00000354490.3:n.2942+23C>T
ENST00000361216.7:c.2942+23C>T	ENSP00000354490.3:n.2942+23C>T
ENST00000392233.7:c.2942+23C>T	ENSP00000376066.3:n.2942+23C>T
ENST00000447527.1:c.2023+23C>T
ENST00000463989.1:n.278+23C>T
NM_000702.3:c.2942+23C>T	NP_000693.1:n.2942+23C>T
NM_000702.4:c.2942+23C>T MANE Select	NP_000693.1:n.2942+23C>T