Canonical Allele Identifier: CA13616836
Gene: ITPR2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10771283

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.26434645G>A , CM000674.2:g.26434645G>A GRCh38
NC_000012.10:g.26478845G>A NCBI36
NC_000012.11:g.26587578G>A , CM000674.1:g.26587578G>A GRCh37
NG_042142.1:g.403554C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381340.7:c.6769+1576C>T ENSP00000370744.3:p.=
ENST00000451599.6:n.1597+1576C>T ENSP00000408287.2:p.=
NM_002223.2:c.6769+1576C>T VV
NM_002223.3:c.6769+1576C>T VV NP_002214.2:p.=
XM_011520645.1:c.6217+1576C>T XP_011518947.1:p.=
XM_011520646.1:c.5836+1576C>T XP_011518948.1:p.=
XM_017019266.1:c.6829+1576C>T XP_016874755.1:p.=
XM_017019267.1:c.6763+1576C>T XP_016874756.1:p.=
XR_001748686.2:n.7245+1576C>T