Canonical Allele Identifier: CA2581077543

Gene: ITPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26483453A>T , CM000674.2:g.26483453A>T	GRCh38
NC_000012.11:g.26636386A>T , CM000674.1:g.26636386A>T	GRCh37
NC_000012.10:g.26527653A>T	NCBI36
NG_042142.1:g.354746T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381340.8:c.6012+245T>A MANE Select	ENSP00000370744.3:n.6012+245T>A
ENST00000381340.7:c.6012+245T>A	ENSP00000370744.3:n.6012+245T>A
ENST00000451599.6:c.840+245T>A	ENSP00000408287.2:n.840+245T>A
NM_002223.2:c.6012+245T>A	NP_002214.2:n.6012+245T>A
NM_002223.3:c.6012+245T>A	NP_002214.2:n.6012+245T>A
XM_011520645.1:c.5460+245T>A	XP_011518947.1:n.5460+245T>A
XM_011520646.1:c.5079+245T>A	XP_011518948.1:n.5079+245T>A
XM_017019266.1:c.6072+245T>A	XP_016874755.1:n.6072+245T>A
XM_017019267.1:c.6006+245T>A	XP_016874756.1:n.6006+245T>A
XR_001748686.2:n.6488+245T>A
NM_002223.4:c.6012+245T>A MANE Select	NP_002214.2:n.6012+245T>A