Canonical Allele Identifier: CA2023423278
Community Standard Title: NM_002223.4(ITPR2):c.7492G= (p.Gly2498=)
Gene: ITPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.26400166C= , CM000674.2:g.26400166C= GRCh38
NC_000012.11:g.26553099C= , CM000674.1:g.26553099C= GRCh37
NC_000012.10:g.26444366C= NCBI36
NG_042142.1:g.438033G=

Transcript Alleles

HGVS Amino-acid Change
NM_002223.4:c.7492G= MANE Select NP_002214.2:p.Gly2498=
ENST00000381340.8:c.7492G= MANE Select ENSP00000370744.3:p.Gly2498=
NM_002223.2:c.7492G= NP_002214.2:p.Gly2498=
NM_002223.3:c.7492G= NP_002214.2:p.Gly2498=
ENST00000381340.7:c.7492G= ENSP00000370744.3:p.Gly2498=
ENST00000451599.6:c.2320G= ENSP00000408287.2:n.2320G=
XM_011520645.1:c.6940G= XP_011518947.1:p.Gly2314=
XM_011520646.1:c.6559G= XP_011518948.1:p.Gly2187=
XM_017019266.1:c.7552G= XP_016874755.1:p.Gly2518=
XM_017019267.1:c.7486G= XP_016874756.1:p.Gly2496=