Canonical Allele Identifier: CA951739511

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1879725961
• gnomAD v3: 12-110345194-CCTGGACTTGGGAAATATA-C
• gnomAD v4: 12-110345194-CCTGGACTTGGGAAATATA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110345199_110345216del , CM000674.2:g.110345199_110345216del	GRCh38
NC_000012.11:g.110783004_110783021del , CM000674.1:g.110783004_110783021del	GRCh37
NC_000012.10:g.109267387_109267404del	NCBI36
NG_007097.2:g.68573_68590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2608-50_2608-33del MANE Select	ENSP00000440045.2:n.2608-50_2608-33del
ENST00000308664.10:c.2608-50_2608-33del	ENSP00000311186.6:n.2608-50_2608-33del
ENST00000377685.9:c.*2448-50_*2448-33del	ENSP00000366913.4:n.*2448-50_*2448-33del
ENST00000539276.6:c.2608-50_2608-33del	ENSP00000440045.2:n.2608-50_2608-33del
ENST00000547792.1:n.493_510del
ENST00000548169.2:c.2279-50_2279-33del
NM_001681.3:c.2608-50_2608-33del	NP_001672.1:n.2608-50_2608-33del
NM_170665.3:c.2608-50_2608-33del	NP_733765.1:n.2608-50_2608-33del
XM_005253888.1:c.2608-50_2608-33del	XP_005253945.1:n.2608-50_2608-33del
XM_011538402.1:c.2608-50_2608-33del	XP_011536704.1:n.2608-50_2608-33del
XR_243009.1:n.2614-50_2614-33del
XM_005253888.3:c.2608-50_2608-33del	XP_005253945.1:n.2608-50_2608-33del
XM_011538402.3:c.2608-50_2608-33del	XP_011536704.1:n.2608-50_2608-33del
XR_002957329.1:n.2614-50_2614-33del
XR_243009.3:n.2614-50_2614-33del
NM_170665.4:c.2608-50_2608-33del MANE Select	NP_733765.1:n.2608-50_2608-33del
NM_001681.4:c.2608-50_2608-33del	NP_001672.1:n.2608-50_2608-33del