Canonical Allele Identifier: CA384161748

Gene: ITPR2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381340.8:c.2883C>G MANE Select	ENSP00000370744.3:p.His961Gln
ENST00000381340.7:c.2883C>G	ENSP00000370744.3:p.His961Gln
NM_002223.2:c.2883C>G	NP_002214.2:p.His961Gln
NM_002223.3:c.2883C>G	NP_002214.2:p.His961Gln
XM_011520645.1:c.2331C>G	XP_011518947.1:p.His777Gln
XM_011520646.1:c.1950C>G	XP_011518948.1:p.His650Gln
XR_931288.1:n.3299C>G
XM_017019266.1:c.2943C>G	XP_016874755.1:p.His981Gln
XM_017019267.1:c.2877C>G	XP_016874756.1:p.His959Gln
XM_017019269.2:c.2943C>G	XP_016874758.1:p.His981Gln
XR_001748686.2:n.3359C>G
XR_001748687.1:n.3359C>G
NM_002223.4:c.2883C>G MANE Select	NP_002214.2:p.His961Gln