Canonical Allele Identifier: CA2620869416

Gene: ATP2A2

Linked Data

• gnomAD v4: 12-110339614-GGTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110339617_110339619del , CM000674.2:g.110339617_110339619del	GRCh38
NC_000012.11:g.110777422_110777424del , CM000674.1:g.110777422_110777424del	GRCh37
NC_000012.10:g.109261805_109261807del	NCBI36
NG_007097.2:g.62991_62993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1657_1659del MANE Select	ENSP00000440045.2:p.Ser553del
ENST00000308664.10:c.1657_1659del	ENSP00000311186.6:p.Ser553del
ENST00000377685.9:c.*1497_*1499del	ENSP00000366913.4:n.*1497_*1499del
ENST00000539276.6:c.1657_1659del	ENSP00000440045.2:p.Ser553del
ENST00000548169.2:c.1328_1330del
NM_001681.3:c.1657_1659del	NP_001672.1:p.Ser553del
NM_170665.3:c.1657_1659del	NP_733765.1:p.Ser553del
XM_005253888.1:c.1657_1659del	XP_005253945.1:p.Ser553del
XM_011538402.1:c.1657_1659del	XP_011536704.1:p.Ser553del
XM_011538403.1:c.1657_1659del	XP_011536705.1:p.Ser553del
XR_243009.1:n.1663_1665del
XM_005253888.3:c.1657_1659del	XP_005253945.1:p.Ser553del
XM_011538402.3:c.1657_1659del	XP_011536704.1:p.Ser553del
XR_002957329.1:n.1663_1665del
XR_243009.3:n.1663_1665del
NM_170665.4:c.1657_1659del MANE Select	NP_733765.1:p.Ser553del
NM_001681.4:c.1657_1659del	NP_001672.1:p.Ser553del