Canonical Allele Identifier: CA2620869307

Gene: ATP2A2

Linked Data

• gnomAD v4: 12-110339452-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110339452C>G , CM000674.2:g.110339452C>G	GRCh38
NC_000012.11:g.110777257C>G , CM000674.1:g.110777257C>G	GRCh37
NC_000012.10:g.109261640C>G	NCBI36
NG_007097.2:g.62826C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1542+49C>G MANE Select	ENSP00000440045.2:n.1542+49C>G
ENST00000308664.10:c.1542+49C>G	ENSP00000311186.6:n.1542+49C>G
ENST00000377685.9:c.*1382+49C>G	ENSP00000366913.4:n.*1382+49C>G
ENST00000539276.6:c.1542+49C>G	ENSP00000440045.2:n.1542+49C>G
ENST00000548169.2:c.1213+49C>G
NM_001681.3:c.1542+49C>G	NP_001672.1:n.1542+49C>G
NM_170665.3:c.1542+49C>G	NP_733765.1:n.1542+49C>G
XM_005253888.1:c.1542+49C>G	XP_005253945.1:n.1542+49C>G
XM_011538402.1:c.1542+49C>G	XP_011536704.1:n.1542+49C>G
XM_011538403.1:c.1542+49C>G	XP_011536705.1:n.1542+49C>G
XR_243009.1:n.1548+49C>G
XM_005253888.3:c.1542+49C>G	XP_005253945.1:n.1542+49C>G
XM_011538402.3:c.1542+49C>G	XP_011536704.1:n.1542+49C>G
XR_002957329.1:n.1548+49C>G
XR_243009.3:n.1548+49C>G
NM_170665.4:c.1542+49C>G MANE Select	NP_733765.1:n.1542+49C>G
NM_001681.4:c.1542+49C>G	NP_001672.1:n.1542+49C>G