Canonical Allele Identifier: CA2620870215

Gene: ATP2A2

Linked Data

• gnomAD v4: 12-110343578-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343578_110343579insC , CM000674.2:g.110343578_110343579insC	GRCh38
NC_000012.11:g.110781383_110781384insC , CM000674.1:g.110781383_110781384insC	GRCh37
NC_000012.10:g.109265766_109265767insC	NCBI36
NG_007097.2:g.66952_66953insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2521+144_2521+145insC MANE Select	ENSP00000440045.2:n.2521+144_2521+145insC
ENST00000308664.10:c.2521+144_2521+145insC	ENSP00000311186.6:n.2521+144_2521+145insC
ENST00000377685.9:c.*2361+144_*2361+145insC	ENSP00000366913.4:n.*2361+144_*2361+145insC
ENST00000539276.6:c.2521+144_2521+145insC	ENSP00000440045.2:n.2521+144_2521+145insC
ENST00000547792.1:n.179+144_179+145insC
ENST00000548169.2:c.2192+144_2192+145insC
NM_001681.3:c.2521+144_2521+145insC	NP_001672.1:n.2521+144_2521+145insC
NM_170665.3:c.2521+144_2521+145insC	NP_733765.1:n.2521+144_2521+145insC
XM_005253888.1:c.2521+144_2521+145insC	XP_005253945.1:n.2521+144_2521+145insC
XM_011538402.1:c.2521+144_2521+145insC	XP_011536704.1:n.2521+144_2521+145insC
XM_011538403.1:c.2521+144_2521+145insC	XP_011536705.1:n.2521+144_2521+145insC
XR_243009.1:n.2527+144_2527+145insC
XM_005253888.3:c.2521+144_2521+145insC	XP_005253945.1:n.2521+144_2521+145insC
XM_011538402.3:c.2521+144_2521+145insC	XP_011536704.1:n.2521+144_2521+145insC
XR_002957329.1:n.2527+144_2527+145insC
XR_243009.3:n.2527+144_2527+145insC
NM_170665.4:c.2521+144_2521+145insC MANE Select	NP_733765.1:n.2521+144_2521+145insC
NM_001681.4:c.2521+144_2521+145insC	NP_001672.1:n.2521+144_2521+145insC