Canonical Allele Identifier: CA607317912

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1258195148
• gnomAD v2: 12-110781273-A-ACTCTTGTGCTATTCTGAGCCC
• gnomAD v4: 12-110343468-A-ACTCTTGTGCTATTCTGAGCCC
• MyVariant Identifiers: chr12:g.110781273_110781274insCTCTTGTGCTATTCTGAGCCC (hg19) ; chr12:g.110343468_110343469insCTCTTGTGCTATTCTGAGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343468_110343469insCTCTTGTGCTATTCTGAGCCC , CM000674.2:g.110343468_110343469insCTCTTGTGCTATTCTGAGCCC	GRCh38
NC_000012.11:g.110781273_110781274insCTCTTGTGCTATTCTGAGCCC , CM000674.1:g.110781273_110781274insCTCTTGTGCTATTCTGAGCCC	GRCh37
NC_000012.10:g.109265656_109265657insCTCTTGTGCTATTCTGAGCCC	NCBI36
NG_007097.2:g.66842_66843insCTCTTGTGCTATTCTGAGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC MANE Select	ENSP00000440045.2:n.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC
ENST00000308664.10:c.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC	ENSP00000311186.6:n.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC
ENST00000377685.9:c.*2361+34_*2361+35insCTCTTGTGCTATTCTGAGCCC	ENSP00000366913.4:n.*2361+34_*2361+35insCTCTTGTGCTATTCTGAGCCC...
ENST00000539276.6:c.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC	ENSP00000440045.2:n.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC
ENST00000547792.1:n.179+34_179+35insCTCTTGTGCTATTCTGAGCCC
ENST00000548169.2:c.2192+34_2192+35insCTCTTGTGCTATTCTGAGCCC
NM_001681.3:c.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC	NP_001672.1:n.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC
NM_170665.3:c.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC	NP_733765.1:n.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC
XM_005253888.1:c.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC	XP_005253945.1:n.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC
XM_011538402.1:c.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC	XP_011536704.1:n.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC
XM_011538403.1:c.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC	XP_011536705.1:n.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC
XR_243009.1:n.2527+34_2527+35insCTCTTGTGCTATTCTGAGCCC
XM_005253888.3:c.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC	XP_005253945.1:n.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC
XM_011538402.3:c.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC	XP_011536704.1:n.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC
XR_002957329.1:n.2527+34_2527+35insCTCTTGTGCTATTCTGAGCCC
XR_243009.3:n.2527+34_2527+35insCTCTTGTGCTATTCTGAGCCC
NM_170665.4:c.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC MANE Select	NP_733765.1:n.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC
NM_001681.4:c.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC	NP_001672.1:n.2521+34_2521+35insCTCTTGTGCTATTCTGAGCCC