Canonical Allele Identifier: CA2602517795

Gene: ATP2A2

Linked Data

• dbSNP Id: rs2137866074
• gnomAD v3: 12-110343664-C-CAATTA
• gnomAD v4: 12-110343664-C-CAATTA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343667_110343671dup , CM000674.2:g.110343667_110343671dup	GRCh38
NC_000012.11:g.110781472_110781476dup , CM000674.1:g.110781472_110781476dup	GRCh37
NC_000012.10:g.109265855_109265859dup	NCBI36
NG_007097.2:g.67041_67045dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2521+233_2521+237dup MANE Select	ENSP00000440045.2:n.2521+233_2521+237dup
ENST00000308664.10:c.2521+233_2521+237dup	ENSP00000311186.6:n.2521+233_2521+237dup
ENST00000377685.9:c.*2361+233_*2361+237dup	ENSP00000366913.4:n.*2361+233_*2361+237dup
ENST00000539276.6:c.2521+233_2521+237dup	ENSP00000440045.2:n.2521+233_2521+237dup
ENST00000547792.1:n.179+233_179+237dup
ENST00000548169.2:c.2192+233_2192+237dup
NM_001681.3:c.2521+233_2521+237dup	NP_001672.1:n.2521+233_2521+237dup
NM_170665.3:c.2521+233_2521+237dup	NP_733765.1:n.2521+233_2521+237dup
XM_005253888.1:c.2521+233_2521+237dup	XP_005253945.1:n.2521+233_2521+237dup
XM_011538402.1:c.2521+233_2521+237dup	XP_011536704.1:n.2521+233_2521+237dup
XM_011538403.1:c.2521+233_2521+237dup	XP_011536705.1:n.2521+233_2521+237dup
XR_243009.1:n.2527+233_2527+237dup
XM_005253888.3:c.2521+233_2521+237dup	XP_005253945.1:n.2521+233_2521+237dup
XM_011538402.3:c.2521+233_2521+237dup	XP_011536704.1:n.2521+233_2521+237dup
XR_002957329.1:n.2527+233_2527+237dup
XR_243009.3:n.2527+233_2527+237dup
NM_170665.4:c.2521+233_2521+237dup MANE Select	NP_733765.1:n.2521+233_2521+237dup
NM_001681.4:c.2521+233_2521+237dup	NP_001672.1:n.2521+233_2521+237dup