Canonical Allele Identifier: CA2238618417

Gene: ATP2C2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84412706_84412708delinsCAA , CM000678.2:g.84412706_84412708delinsCAA	GRCh38
NC_000016.9:g.84446312_84446314delinsCAA , CM000678.1:g.84446312_84446314delinsCAA	GRCh37
NC_000016.8:g.83003813_83003815delinsCAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262429.9:c.515+1941_515+1943delinsCAA MANE Select	ENSP00000262429.4:n.515+1941_515+1943deli...
ENST00000262429.8:c.515+1941_515+1943delinsCAA	ENSP00000262429.4:n.515+1941_515+1943deli...
ENST00000416219.6:c.515+1941_515+1943delinsCAA	ENSP00000397925.2:n.515+1941_515+1943deli...
ENST00000420010.6:n.188+2103_188+2105delinsCAA
ENST00000565546.5:n.250+1941_250+1943delinsCAA
ENST00000565631.5:n.1006+1941_1006+1943delinsCAA
ENST00000565927.1:n.504+1941_504+1943delinsCAA
ENST00000569207.5:c.237+1941_237+1943delinsCAA
NM_001286527.2:c.515+1941_515+1943delinsCAA	NP_001273456.2:n.515+1941_515+1943delinsC...
NM_001291454.1:c.62+2103_62+2105delinsCAA	NP_001278383.1:n.62+2103_62+2105delinsCAA...
NM_014861.3:c.515+1941_515+1943delinsCAA	NP_055676.3:n.515+1941_515+1943delinsCAA
XM_011523486.1:c.446+1941_446+1943delinsCAA	XP_011521788.1:n.446+1941_446+1943delinsC...
XM_011523486.2:c.446+1941_446+1943delinsCAA	XP_011521788.1:n.446+1941_446+1943delinsC...
XR_001752045.1:n.608+1941_608+1943delinsCAA
NM_001286527.3:c.515+1941_515+1943delinsCAA	NP_001273456.2:n.515+1941_515+1943delinsC...
NM_001291454.2:c.62+2103_62+2105delinsCAA	NP_001278383.1:n.62+2103_62+2105delinsCAA...
NM_014861.4:c.515+1941_515+1943delinsCAA MANE Select	NP_055676.3:n.515+1941_515+1943delinsCAA