Canonical Allele Identifier: CA2023488218
Gene: ITPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.26515735G>T , CM000674.2:g.26515735G>T GRCh38
NC_000012.11:g.26668668G>T , CM000674.1:g.26668668G>T GRCh37
NC_000012.10:g.26559935G>T NCBI36
NG_042142.1:g.322464C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381340.8:c.5074-20475C>A MANE Select ENSP00000370744.3:n.5074-20475C>A
ENST00000381340.7:c.5074-20475C>A ENSP00000370744.3:n.5074-20475C>A
NM_002223.2:c.5074-20475C>A NP_002214.2:n.5074-20475C>A
NM_002223.3:c.5074-20475C>A NP_002214.2:n.5074-20475C>A
XM_011520645.1:c.4522-20475C>A XP_011518947.1:n.4522-20475C>A
XM_011520646.1:c.4141-20475C>A XP_011518948.1:n.4141-20475C>A
XR_931288.1:n.5490-20475C>A
XM_017019266.1:c.5134-20475C>A XP_016874755.1:n.5134-20475C>A
XM_017019267.1:c.5068-20475C>A XP_016874756.1:n.5068-20475C>A
XM_017019269.2:c.5134-5104C>A XP_016874758.1:n.5134-5104C>A
XR_001748686.2:n.5550-20475C>A
XR_001748687.1:n.5550-20475C>A
NM_002223.4:c.5074-20475C>A MANE Select NP_002214.2:n.5074-20475C>A