Canonical Allele Identifier: CA2620870223

Gene: ATP2A2

Linked Data

• gnomAD v4: 12-110343586-A-AAGAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343586_110343587insAGAGGG , CM000674.2:g.110343586_110343587insAGAGGG	GRCh38
NC_000012.11:g.110781391_110781392insAGAGGG , CM000674.1:g.110781391_110781392insAGAGGG	GRCh37
NC_000012.10:g.109265774_109265775insAGAGGG	NCBI36
NG_007097.2:g.66960_66961insAGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2521+152_2521+153insAGAGGG MANE Select	ENSP00000440045.2:n.2521+152_2521+153insAGAGGG
ENST00000308664.10:c.2521+152_2521+153insAGAGGG	ENSP00000311186.6:n.2521+152_2521+153insAGAGGG
ENST00000377685.9:c.*2361+152_*2361+153insAGAGGG	ENSP00000366913.4:n.*2361+152_*2361+153insAGAGGG
ENST00000539276.6:c.2521+152_2521+153insAGAGGG	ENSP00000440045.2:n.2521+152_2521+153insAGAGGG
ENST00000547792.1:n.179+152_179+153insAGAGGG
ENST00000548169.2:c.2192+152_2192+153insAGAGGG
NM_001681.3:c.2521+152_2521+153insAGAGGG	NP_001672.1:n.2521+152_2521+153insAGAGGG
NM_170665.3:c.2521+152_2521+153insAGAGGG	NP_733765.1:n.2521+152_2521+153insAGAGGG
XM_005253888.1:c.2521+152_2521+153insAGAGGG	XP_005253945.1:n.2521+152_2521+153insAGAGGG
XM_011538402.1:c.2521+152_2521+153insAGAGGG	XP_011536704.1:n.2521+152_2521+153insAGAGGG
XM_011538403.1:c.2521+152_2521+153insAGAGGG	XP_011536705.1:n.2521+152_2521+153insAGAGGG
XR_243009.1:n.2527+152_2527+153insAGAGGG
XM_005253888.3:c.2521+152_2521+153insAGAGGG	XP_005253945.1:n.2521+152_2521+153insAGAGGG
XM_011538402.3:c.2521+152_2521+153insAGAGGG	XP_011536704.1:n.2521+152_2521+153insAGAGGG
XR_002957329.1:n.2527+152_2527+153insAGAGGG
XR_243009.3:n.2527+152_2527+153insAGAGGG
NM_170665.4:c.2521+152_2521+153insAGAGGG MANE Select	NP_733765.1:n.2521+152_2521+153insAGAGGG
NM_001681.4:c.2521+152_2521+153insAGAGGG	NP_001672.1:n.2521+152_2521+153insAGAGGG