Canonical Allele Identifier: CA2062804682

Gene: ATP2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110340716_110340719delinsGCCT , CM000674.2:g.110340716_110340719delinsGCCT	GRCh38
NC_000012.11:g.110778521_110778524delinsGCCT , CM000674.1:g.110778521_110778524delinsGCCT	GRCh37
NC_000012.10:g.109262904_109262907delinsGCCT	NCBI36
NG_007097.2:g.64090_64093delinsGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1819_1822delinsGCCT MANE Select	ENSP00000440045.2:p.Ala607=
ENST00000308664.10:c.1819_1822delinsGCCT	ENSP00000311186.6:p.Ala607=
ENST00000377685.9:c.*1659_*1662delinsGCCT	ENSP00000366913.4:n.*1659_*1662delinsGCCT
ENST00000539276.6:c.1819_1822delinsGCCT	ENSP00000440045.2:p.Ala607=
ENST00000548169.2:c.1490_1493delinsGCCT
NM_001681.3:c.1819_1822delinsGCCT	NP_001672.1:p.Ala607=
NM_170665.3:c.1819_1822delinsGCCT	NP_733765.1:p.Ala607=
XM_005253888.1:c.1819_1822delinsGCCT	XP_005253945.1:p.Ala607=
XM_011538402.1:c.1819_1822delinsGCCT	XP_011536704.1:p.Ala607=
XM_011538403.1:c.1819_1822delinsGCCT	XP_011536705.1:p.Ala607=
XR_243009.1:n.1825_1828delinsGCCT
XM_005253888.3:c.1819_1822delinsGCCT	XP_005253945.1:p.Ala607=
XM_011538402.3:c.1819_1822delinsGCCT	XP_011536704.1:p.Ala607=
XR_002957329.1:n.1825_1828delinsGCCT
XR_243009.3:n.1825_1828delinsGCCT
NM_170665.4:c.1819_1822delinsGCCT MANE Select	NP_733765.1:p.Ala607=
NM_001681.4:c.1819_1822delinsGCCT	NP_001672.1:p.Ala607=