Canonical Allele Identifier: CA234831213

Gene: ITPR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26377610T>A , CM000674.2:g.26377610T>A	GRCh38
NC_000012.11:g.26530543T>A , CM000674.1:g.26530543T>A	GRCh37
NC_000012.10:g.26421810T>A	NCBI36
NG_042142.1:g.460589A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381340.8:c.7857+9824A>T MANE Select	ENSP00000370744.3:n.7857+9824A>T
ENST00000381340.7:c.7857+9824A>T	ENSP00000370744.3:n.7857+9824A>T
NM_002223.2:c.7857+9824A>T	NP_002214.2:n.7857+9824A>T
NM_002223.3:c.7857+9824A>T	NP_002214.2:n.7857+9824A>T
XM_011520645.1:c.7305+9824A>T	XP_011518947.1:n.7305+9824A>T
XM_011520646.1:c.6924+9824A>T	XP_011518948.1:n.6924+9824A>T
XM_017019266.1:c.7917+9824A>T	XP_016874755.1:n.7917+9824A>T
XM_017019267.1:c.7851+9824A>T	XP_016874756.1:n.7851+9824A>T
NM_002223.4:c.7857+9824A>T MANE Select	NP_002214.2:n.7857+9824A>T