Canonical Allele Identifier: CA607317931

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1245555108
• gnomAD v2: 12-110781417-CAGTT-C
• MyVariant Identifiers: chr12:g.110781418_110781421del (hg19) ; chr12:g.110343613_110343616del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343617_110343620del , CM000674.2:g.110343617_110343620del	GRCh38
NC_000012.11:g.110781422_110781425del , CM000674.1:g.110781422_110781425del	GRCh37
NC_000012.10:g.109265805_109265808del	NCBI36
NG_007097.2:g.66991_66994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2521+183_2521+186del MANE Select	ENSP00000440045.2:n.2521+183_2521+186del
ENST00000308664.10:c.2521+183_2521+186del	ENSP00000311186.6:n.2521+183_2521+186del
ENST00000377685.9:c.*2361+183_*2361+186del	ENSP00000366913.4:n.*2361+183_*2361+186del
ENST00000539276.6:c.2521+183_2521+186del	ENSP00000440045.2:n.2521+183_2521+186del
ENST00000547792.1:n.179+183_179+186del
ENST00000548169.2:c.2192+183_2192+186del
NM_001681.3:c.2521+183_2521+186del	NP_001672.1:n.2521+183_2521+186del
NM_170665.3:c.2521+183_2521+186del	NP_733765.1:n.2521+183_2521+186del
XM_005253888.1:c.2521+183_2521+186del	XP_005253945.1:n.2521+183_2521+186del
XM_011538402.1:c.2521+183_2521+186del	XP_011536704.1:n.2521+183_2521+186del
XM_011538403.1:c.2521+183_2521+186del	XP_011536705.1:n.2521+183_2521+186del
XR_243009.1:n.2527+183_2527+186del
XM_005253888.3:c.2521+183_2521+186del	XP_005253945.1:n.2521+183_2521+186del
XM_011538402.3:c.2521+183_2521+186del	XP_011536704.1:n.2521+183_2521+186del
XR_002957329.1:n.2527+183_2527+186del
XR_243009.3:n.2527+183_2527+186del
NM_170665.4:c.2521+183_2521+186del MANE Select	NP_733765.1:n.2521+183_2521+186del
NM_001681.4:c.2521+183_2521+186del	NP_001672.1:n.2521+183_2521+186del