Canonical Allele Identifier: CA6489463

Gene: ITPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26631917G>A , CM000674.2:g.26631917G>A	GRCh38
NC_000012.11:g.26784850G>A , CM000674.1:g.26784850G>A	GRCh37
NC_000012.10:g.26676117G>A	NCBI36
NG_042142.1:g.206282C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381340.8:c.2883C>T MANE Select	ENSP00000370744.3:p.His961=
ENST00000381340.7:c.2883C>T	ENSP00000370744.3:p.His961=
NM_002223.2:c.2883C>T	NP_002214.2:p.His961=
NM_002223.3:c.2883C>T	NP_002214.2:p.His961=
XM_011520645.1:c.2331C>T	XP_011518947.1:p.His777=
XM_011520646.1:c.1950C>T	XP_011518948.1:p.His650=
XR_931288.1:n.3299C>T
XM_017019266.1:c.2943C>T	XP_016874755.1:p.His981=
XM_017019267.1:c.2877C>T	XP_016874756.1:p.His959=
XM_017019269.2:c.2943C>T	XP_016874758.1:p.His981=
XR_001748686.2:n.3359C>T
XR_001748687.1:n.3359C>T
NM_002223.4:c.2883C>T MANE Select	NP_002214.2:p.His961=