Canonical Allele Identifier: CA2062810488

Gene: ATP2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110345668_110345676delinsCTCACCCTT , CM000674.2:g.110345668_110345676delinsCTCACCCTT	GRCh38
NC_000012.11:g.110783473_110783481delinsCTCACCCTT , CM000674.1:g.110783473_110783481delinsCTCACCCTT	GRCh37
NC_000012.10:g.109267856_109267864delinsCTCACCCTT	NCBI36
NG_007097.2:g.69042_69050delinsCTCACCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2741+286_2741+294delinsCTCACCCTT MANE Select	ENSP00000440045.2:n.2741+286_2741+294delinsCTCACCCTT
ENST00000308664.10:c.2741+286_2741+294delinsCTCACCCTT	ENSP00000311186.6:n.2741+286_2741+294delinsCTCACCCTT
ENST00000313432.5:n.232_240delinsCTCACCCTT
ENST00000377685.9:c.*2581+286_*2581+294delinsCTCACCCTT	ENSP00000366913.4:n.*2581+286_*2581+294delinsCTCACCCTT
ENST00000539276.6:c.2741+286_2741+294delinsCTCACCCTT	ENSP00000440045.2:n.2741+286_2741+294delinsCTCACCCTT
ENST00000548169.2:c.2412+286_2412+294delinsCTCACCCTT
NM_001681.3:c.2741+286_2741+294delinsCTCACCCTT	NP_001672.1:n.2741+286_2741+294delinsCTCACCCTT
NM_170665.3:c.2741+286_2741+294delinsCTCACCCTT	NP_733765.1:n.2741+286_2741+294delinsCTCACCCTT
XM_005253888.1:c.2741+286_2741+294delinsCTCACCCTT	XP_005253945.1:n.2741+286_2741+294delinsCTCACCCTT
XM_011538402.1:c.2741+286_2741+294delinsCTCACCCTT	XP_011536704.1:n.2741+286_2741+294delinsCTCACCCTT
XR_243009.1:n.2747+286_2747+294delinsCTCACCCTT
XM_005253888.3:c.2741+286_2741+294delinsCTCACCCTT	XP_005253945.1:n.2741+286_2741+294delinsCTCACCCTT
XM_011538402.3:c.2741+286_2741+294delinsCTCACCCTT	XP_011536704.1:n.2741+286_2741+294delinsCTCACCCTT
XR_002957329.1:n.2747+286_2747+294delinsCTCACCCTT
XR_243009.3:n.2747+286_2747+294delinsCTCACCCTT
NM_170665.4:c.2741+286_2741+294delinsCTCACCCTT MANE Select	NP_733765.1:n.2741+286_2741+294delinsCTCACCCTT
NM_001681.4:c.2741+286_2741+294delinsCTCACCCTT	NP_001672.1:n.2741+286_2741+294delinsCTCACCCTT