Canonical Allele Identifier: CA6784194

Gene: ATP2A2

Linked Data

• dbSNP Id: rs747765011
• ExAC: 12:110783235 G / GGCTCTGTGTATTCTCTGCT
• MyVariant Identifiers: chr12:g.110783235_110783236insGCTCTGTGTATTCTCTGCT (hg19) ; chr12:g.110345430_110345431insGCTCTGTGTATTCTCTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110345432_110345433insTCTGTGTATTCTCTGCTGC , CM000674.2:g.110345432_110345433insTCTGTGTATTCTCTGCTGC	GRCh38
NC_000012.11:g.110783237_110783238insTCTGTGTATTCTCTGCTGC , CM000674.1:g.110783237_110783238insTCTGTGTATTCTCTGCTGC	GRCh37
NC_000012.10:g.109267620_109267621insTCTGTGTATTCTCTGCTGC	NCBI36
NG_007097.2:g.68806_68807insTCTGTGTATTCTCTGCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2741+50_2741+51insTCTGTGTATTCTCTGCTGC MANE Select	ENSP00000440045.2:n.2741+50_2741+51insTCTGTGTATTCTCTGCTGC
ENST00000308664.10:c.2741+50_2741+51insTCTGTGTATTCTCTGCTGC	ENSP00000311186.6:n.2741+50_2741+51insTCTGTGTATTCTCTGCTGC
ENST00000377685.9:c.*2581+50_*2581+51insTCTGTGTATTCTCTGCTGC	ENSP00000366913.4:n.*2581+50_*2581+51insTCTGTGTATTCTCTGCTGC
ENST00000539276.6:c.2741+50_2741+51insTCTGTGTATTCTCTGCTGC	ENSP00000440045.2:n.2741+50_2741+51insTCTGTGTATTCTCTGCTGC
ENST00000548169.2:c.2412+50_2412+51insTCTGTGTATTCTCTGCTGC
NM_001681.3:c.2741+50_2741+51insTCTGTGTATTCTCTGCTGC	NP_001672.1:n.2741+50_2741+51insTCTGTGTATTCTCTGCTGC
NM_170665.3:c.2741+50_2741+51insTCTGTGTATTCTCTGCTGC	NP_733765.1:n.2741+50_2741+51insTCTGTGTATTCTCTGCTGC
XM_005253888.1:c.2741+50_2741+51insTCTGTGTATTCTCTGCTGC	XP_005253945.1:n.2741+50_2741+51insTCTGTGTATTCTCTGCTGC
XM_011538402.1:c.2741+50_2741+51insTCTGTGTATTCTCTGCTGC	XP_011536704.1:n.2741+50_2741+51insTCTGTGTATTCTCTGCTGC
XR_243009.1:n.2747+50_2747+51insTCTGTGTATTCTCTGCTGC
XM_005253888.3:c.2741+50_2741+51insTCTGTGTATTCTCTGCTGC	XP_005253945.1:n.2741+50_2741+51insTCTGTGTATTCTCTGCTGC
XM_011538402.3:c.2741+50_2741+51insTCTGTGTATTCTCTGCTGC	XP_011536704.1:n.2741+50_2741+51insTCTGTGTATTCTCTGCTGC
XR_002957329.1:n.2747+50_2747+51insTCTGTGTATTCTCTGCTGC
XR_243009.3:n.2747+50_2747+51insTCTGTGTATTCTCTGCTGC
NM_170665.4:c.2741+50_2741+51insTCTGTGTATTCTCTGCTGC MANE Select	NP_733765.1:n.2741+50_2741+51insTCTGTGTATTCTCTGCTGC
NM_001681.4:c.2741+50_2741+51insTCTGTGTATTCTCTGCTGC	NP_001672.1:n.2741+50_2741+51insTCTGTGTATTCTCTGCTGC