Canonical Allele Identifier: CA6783915

Gene: ATP2A2

Linked Data

• dbSNP Id: rs775652178
• ExAC: 12:110777216 T / G
• gnomAD v2: 12-110777216-T-G
• gnomAD v4: 12-110339411-T-G
• MyVariant Identifiers: chr12:g.110777216T>G (hg19) ; chr12:g.110339411T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110339411T>G , CM000674.2:g.110339411T>G	GRCh38
NC_000012.11:g.110777216T>G , CM000674.1:g.110777216T>G	GRCh37
NC_000012.10:g.109261599T>G	NCBI36
NG_007097.2:g.62785T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1542+8T>G MANE Select	ENSP00000440045.2:n.1542+8T>G
ENST00000308664.10:c.1542+8T>G	ENSP00000311186.6:n.1542+8T>G
ENST00000377685.9:c.*1382+8T>G	ENSP00000366913.4:n.*1382+8T>G
ENST00000539276.6:c.1542+8T>G	ENSP00000440045.2:n.1542+8T>G
ENST00000548169.2:c.1213+8T>G
NM_001681.3:c.1542+8T>G	NP_001672.1:n.1542+8T>G
NM_170665.3:c.1542+8T>G	NP_733765.1:n.1542+8T>G
XM_005253888.1:c.1542+8T>G	XP_005253945.1:n.1542+8T>G
XM_011538402.1:c.1542+8T>G	XP_011536704.1:n.1542+8T>G
XM_011538403.1:c.1542+8T>G	XP_011536705.1:n.1542+8T>G
XR_243009.1:n.1548+8T>G
XM_005253888.3:c.1542+8T>G	XP_005253945.1:n.1542+8T>G
XM_011538402.3:c.1542+8T>G	XP_011536704.1:n.1542+8T>G
XR_002957329.1:n.1548+8T>G
XR_243009.3:n.1548+8T>G
NM_170665.4:c.1542+8T>G MANE Select	NP_733765.1:n.1542+8T>G
NM_001681.4:c.1542+8T>G	NP_001672.1:n.1542+8T>G