Canonical Allele Identifier: CA243510825

Gene: ATP2A2

Linked Data

• dbSNP Id: rs759044107
• gnomAD v4: 12-110343582-C-CGT
• MyVariant Identifiers: chr12:g.110781387_110781388insGT (hg19) ; chr12:g.110343582_110343583insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343582_110343583insGT , CM000674.2:g.110343582_110343583insGT	GRCh38
NC_000012.11:g.110781387_110781388insGT , CM000674.1:g.110781387_110781388insGT	GRCh37
NC_000012.10:g.109265770_109265771insGT	NCBI36
NG_007097.2:g.66956_66957insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2521+148_2521+149insGT MANE Select	ENSP00000440045.2:n.2521+148_2521+149insGT
ENST00000308664.10:c.2521+148_2521+149insGT	ENSP00000311186.6:n.2521+148_2521+149insGT
ENST00000377685.9:c.*2361+148_*2361+149insGT	ENSP00000366913.4:n.*2361+148_*2361+149insGT
ENST00000539276.6:c.2521+148_2521+149insGT	ENSP00000440045.2:n.2521+148_2521+149insGT
ENST00000547792.1:n.179+148_179+149insGT
ENST00000548169.2:c.2192+148_2192+149insGT
NM_001681.3:c.2521+148_2521+149insGT	NP_001672.1:n.2521+148_2521+149insGT
NM_170665.3:c.2521+148_2521+149insGT	NP_733765.1:n.2521+148_2521+149insGT
XM_005253888.1:c.2521+148_2521+149insGT	XP_005253945.1:n.2521+148_2521+149insGT
XM_011538402.1:c.2521+148_2521+149insGT	XP_011536704.1:n.2521+148_2521+149insGT
XM_011538403.1:c.2521+148_2521+149insGT	XP_011536705.1:n.2521+148_2521+149insGT
XR_243009.1:n.2527+148_2527+149insGT
XM_005253888.3:c.2521+148_2521+149insGT	XP_005253945.1:n.2521+148_2521+149insGT
XM_011538402.3:c.2521+148_2521+149insGT	XP_011536704.1:n.2521+148_2521+149insGT
XR_002957329.1:n.2527+148_2527+149insGT
XR_243009.3:n.2527+148_2527+149insGT
NM_170665.4:c.2521+148_2521+149insGT MANE Select	NP_733765.1:n.2521+148_2521+149insGT
NM_001681.4:c.2521+148_2521+149insGT	NP_001672.1:n.2521+148_2521+149insGT