Canonical Allele Identifier: CA607317918

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1286535077
• gnomAD v2: 12-110781281-G-GCTTCTTCAT
• gnomAD v4: 12-110343476-G-GCTTCTTCAT
• MyVariant Identifiers: chr12:g.110781281_110781282insCTTCTTCAT (hg19) ; chr12:g.110343476_110343477insCTTCTTCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343476_110343477insCTTCTTCAT , CM000674.2:g.110343476_110343477insCTTCTTCAT	GRCh38
NC_000012.11:g.110781281_110781282insCTTCTTCAT , CM000674.1:g.110781281_110781282insCTTCTTCAT	GRCh37
NC_000012.10:g.109265664_109265665insCTTCTTCAT	NCBI36
NG_007097.2:g.66850_66851insCTTCTTCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2521+42_2521+43insCTTCTTCAT MANE Select	ENSP00000440045.2:n.2521+42_2521+43insCTTCTTCAT
ENST00000308664.10:c.2521+42_2521+43insCTTCTTCAT	ENSP00000311186.6:n.2521+42_2521+43insCTTCTTCAT
ENST00000377685.9:c.*2361+42_*2361+43insCTTCTTCAT	ENSP00000366913.4:n.*2361+42_*2361+43insCTTCTTCAT
ENST00000539276.6:c.2521+42_2521+43insCTTCTTCAT	ENSP00000440045.2:n.2521+42_2521+43insCTTCTTCAT
ENST00000547792.1:n.179+42_179+43insCTTCTTCAT
ENST00000548169.2:c.2192+42_2192+43insCTTCTTCAT
NM_001681.3:c.2521+42_2521+43insCTTCTTCAT	NP_001672.1:n.2521+42_2521+43insCTTCTTCAT
NM_170665.3:c.2521+42_2521+43insCTTCTTCAT	NP_733765.1:n.2521+42_2521+43insCTTCTTCAT
XM_005253888.1:c.2521+42_2521+43insCTTCTTCAT	XP_005253945.1:n.2521+42_2521+43insCTTCTTCAT
XM_011538402.1:c.2521+42_2521+43insCTTCTTCAT	XP_011536704.1:n.2521+42_2521+43insCTTCTTCAT
XM_011538403.1:c.2521+42_2521+43insCTTCTTCAT	XP_011536705.1:n.2521+42_2521+43insCTTCTTCAT
XR_243009.1:n.2527+42_2527+43insCTTCTTCAT
XM_005253888.3:c.2521+42_2521+43insCTTCTTCAT	XP_005253945.1:n.2521+42_2521+43insCTTCTTCAT
XM_011538402.3:c.2521+42_2521+43insCTTCTTCAT	XP_011536704.1:n.2521+42_2521+43insCTTCTTCAT
XR_002957329.1:n.2527+42_2527+43insCTTCTTCAT
XR_243009.3:n.2527+42_2527+43insCTTCTTCAT
NM_170665.4:c.2521+42_2521+43insCTTCTTCAT MANE Select	NP_733765.1:n.2521+42_2521+43insCTTCTTCAT
NM_001681.4:c.2521+42_2521+43insCTTCTTCAT	NP_001672.1:n.2521+42_2521+43insCTTCTTCAT