Canonical Allele Identifier: CA1194584

Gene: ATP1A2

Linked Data

• dbSNP Id: rs763588183
• ExAC: 1:160100421 C / G
• gnomAD v2: 1-160100421-C-G
• gnomAD v3: 1-160130631-C-G
• gnomAD v4: 1-160130631-C-G
• MyVariant Identifiers: chr1:g.160100421C>G (hg19) ; chr1:g.160130631C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160130631C>G , CM000663.2:g.160130631C>G	GRCh38
NC_000001.10:g.160100421C>G , CM000663.1:g.160100421C>G	GRCh37
NC_000001.9:g.158367045C>G	NCBI36
NG_008014.1:g.19874C>G , LRG_6:g.19874C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361216.8:c.1827+34C>G MANE Select	ENSP00000354490.3:n.1827+34C>G
ENST00000361216.7:c.1827+34C>G	ENSP00000354490.3:n.1827+34C>G
ENST00000392233.7:c.1827+34C>G	ENSP00000376066.3:n.1827+34C>G
ENST00000447527.1:c.959+34C>G
ENST00000472488.5:n.1930+34C>G
NM_000702.3:c.1827+34C>G	NP_000693.1:n.1827+34C>G
NM_000702.4:c.1827+34C>G MANE Select	NP_000693.1:n.1827+34C>G