Canonical Allele Identifier: CA2062807419

Gene: ATP2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343508_110343511delinsTTAA , CM000674.2:g.110343508_110343511delinsTTAA	GRCh38
NC_000012.11:g.110781313_110781316delinsTTAA , CM000674.1:g.110781313_110781316delinsTTAA	GRCh37
NC_000012.10:g.109265696_109265699delinsTTAA	NCBI36
NG_007097.2:g.66882_66885delinsTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2521+74_2521+77delinsTTAA MANE Select	ENSP00000440045.2:n.2521+74_2521+77delinsTTAA
ENST00000308664.10:c.2521+74_2521+77delinsTTAA	ENSP00000311186.6:n.2521+74_2521+77delinsTTAA
ENST00000377685.9:c.*2361+74_*2361+77delinsTTAA	ENSP00000366913.4:n.*2361+74_*2361+77delinsTTAA
ENST00000539276.6:c.2521+74_2521+77delinsTTAA	ENSP00000440045.2:n.2521+74_2521+77delinsTTAA
ENST00000547792.1:n.179+74_179+77delinsTTAA
ENST00000548169.2:c.2192+74_2192+77delinsTTAA
NM_001681.3:c.2521+74_2521+77delinsTTAA	NP_001672.1:n.2521+74_2521+77delinsTTAA
NM_170665.3:c.2521+74_2521+77delinsTTAA	NP_733765.1:n.2521+74_2521+77delinsTTAA
XM_005253888.1:c.2521+74_2521+77delinsTTAA	XP_005253945.1:n.2521+74_2521+77delinsTTAA
XM_011538402.1:c.2521+74_2521+77delinsTTAA	XP_011536704.1:n.2521+74_2521+77delinsTTAA
XM_011538403.1:c.2521+74_2521+77delinsTTAA	XP_011536705.1:n.2521+74_2521+77delinsTTAA
XR_243009.1:n.2527+74_2527+77delinsTTAA
XM_005253888.3:c.2521+74_2521+77delinsTTAA	XP_005253945.1:n.2521+74_2521+77delinsTTAA
XM_011538402.3:c.2521+74_2521+77delinsTTAA	XP_011536704.1:n.2521+74_2521+77delinsTTAA
XR_002957329.1:n.2527+74_2527+77delinsTTAA
XR_243009.3:n.2527+74_2527+77delinsTTAA
NM_170665.4:c.2521+74_2521+77delinsTTAA MANE Select	NP_733765.1:n.2521+74_2521+77delinsTTAA
NM_001681.4:c.2521+74_2521+77delinsTTAA	NP_001672.1:n.2521+74_2521+77delinsTTAA