Canonical Allele Identifier: CA2648643171

Gene: ATP1A2

Linked Data

• gnomAD v4: 1-160130641-C-CCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160130642_160130644dup , CM000663.2:g.160130642_160130644dup	GRCh38
NC_000001.10:g.160100432_160100434dup , CM000663.1:g.160100432_160100434dup	GRCh37
NC_000001.9:g.158367056_158367058dup	NCBI36
NG_008014.1:g.19885_19887dup , LRG_6:g.19885_19887dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361216.8:c.1827+45_1827+47dup MANE Select	ENSP00000354490.3:n.1827+45_1827+47dup
ENST00000361216.7:c.1827+45_1827+47dup	ENSP00000354490.3:n.1827+45_1827+47dup
ENST00000392233.7:c.1827+45_1827+47dup	ENSP00000376066.3:n.1827+45_1827+47dup
ENST00000447527.1:c.959+45_959+47dup
ENST00000472488.5:n.1930+45_1930+47dup
NM_000702.3:c.1827+45_1827+47dup	NP_000693.1:n.1827+45_1827+47dup
NM_000702.4:c.1827+45_1827+47dup MANE Select	NP_000693.1:n.1827+45_1827+47dup