Canonical Allele Identifier: CA481734454

Gene: ATP2A2

Linked Data

• dbSNP Id: rs766248271
• gnomAD v4: 12-110340877-C-A
• MyVariant Identifiers: chr12:g.110778682C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110340877C>A , CM000674.2:g.110340877C>A	GRCh38
NC_000012.11:g.110778682C>A , CM000674.1:g.110778682C>A	GRCh37
NC_000012.10:g.109263065C>A	NCBI36
NG_007097.2:g.64251C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1980C>A MANE Select	ENSP00000440045.2:p.Leu660=
ENST00000308664.10:c.1980C>A	ENSP00000311186.6:p.Leu660=
ENST00000377685.9:c.*1820C>A	ENSP00000366913.4:n.*1820C>A
ENST00000539276.6:c.1980C>A	ENSP00000440045.2:p.Leu660=
ENST00000548169.2:c.1651C>A
NM_001681.3:c.1980C>A	NP_001672.1:p.Leu660=
NM_170665.3:c.1980C>A	NP_733765.1:p.Leu660=
XM_005253888.1:c.1980C>A	XP_005253945.1:p.Leu660=
XM_011538402.1:c.1980C>A	XP_011536704.1:p.Leu660=
XM_011538403.1:c.1980C>A	XP_011536705.1:p.Leu660=
XR_243009.1:n.1986C>A
XM_005253888.3:c.1980C>A	XP_005253945.1:p.Leu660=
XM_011538402.3:c.1980C>A	XP_011536704.1:p.Leu660=
XR_002957329.1:n.1986C>A
XR_243009.3:n.1986C>A
NM_170665.4:c.1980C>A MANE Select	NP_733765.1:p.Leu660=
NM_001681.4:c.1980C>A	NP_001672.1:p.Leu660=