Canonical Allele Identifier: CA6489463
Gene: ITPR2 HGNC NCBI
COSMIC:
COSM4146967 (not active)
MyVariant.info:
GRCh38 chr12:g.26631917G>A
GRCh37 chr12:g.26784850G>A
gnomAD v2:
12:26784850 G / A
gnomAD v3:
12:26631917 G / A
gnomAD v4:
chr12-26631917-G-A
Joint Max Group AF 0.61182427 (SAS)
Genomes Max Group AF 0.60167575 (SAS)
Exomes Max Group AF 0.61147643 (SAS)
ClinVar RCV:
RCV001731027
ClinVar Variation:
1300049
dbSNP:
2230372
JSON-LD

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=
Search 100 bp 5'
Search 100 bp 3'