Canonical Allele Identifier: CA2238618430

Gene: ATP2C2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84412725_84412726delinsCT , CM000678.2:g.84412725_84412726delinsCT	GRCh38
NC_000016.9:g.84446331_84446332delinsCT , CM000678.1:g.84446331_84446332delinsCT	GRCh37
NC_000016.8:g.83003832_83003833delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262429.9:c.515+1960_515+1961delinsCT MANE Select	ENSP00000262429.4:n.515+1960_515+1961delinsCT
ENST00000262429.8:c.515+1960_515+1961delinsCT	ENSP00000262429.4:n.515+1960_515+1961delinsCT
ENST00000416219.6:c.515+1960_515+1961delinsCT	ENSP00000397925.2:n.515+1960_515+1961delinsCT
ENST00000420010.6:n.188+2122_188+2123delinsCT
ENST00000565546.5:n.250+1960_250+1961delinsCT
ENST00000565631.5:n.1006+1960_1006+1961delinsCT
ENST00000565927.1:n.504+1960_504+1961delinsCT
ENST00000569207.5:c.237+1960_237+1961delinsCT
NM_001286527.2:c.515+1960_515+1961delinsCT	NP_001273456.2:n.515+1960_515+1961delinsCT
NM_001291454.1:c.62+2122_62+2123delinsCT	NP_001278383.1:n.62+2122_62+2123delinsCT
NM_014861.3:c.515+1960_515+1961delinsCT	NP_055676.3:n.515+1960_515+1961delinsCT
XM_011523486.1:c.446+1960_446+1961delinsCT	XP_011521788.1:n.446+1960_446+1961delinsCT
XM_011523486.2:c.446+1960_446+1961delinsCT	XP_011521788.1:n.446+1960_446+1961delinsCT
XR_001752045.1:n.608+1960_608+1961delinsCT
NM_001286527.3:c.515+1960_515+1961delinsCT	NP_001273456.2:n.515+1960_515+1961delinsCT
NM_001291454.2:c.62+2122_62+2123delinsCT	NP_001278383.1:n.62+2122_62+2123delinsCT
NM_014861.4:c.515+1960_515+1961delinsCT MANE Select	NP_055676.3:n.515+1960_515+1961delinsCT