Canonical Allele Identifier: CA2023464521
Community Standard Title: NM_002223.4(ITPR2):c.4630+3131T=
Gene: ITPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.26575582A= , CM000674.2:g.26575582A= GRCh38
NC_000012.11:g.26728515A= , CM000674.1:g.26728515A= GRCh37
NC_000012.10:g.26619782A= NCBI36
NG_042142.1:g.262617T=

Transcript Alleles

HGVS Amino-acid Change
NM_002223.4:c.4630+3131T= MANE Select NP_002214.2:n.4630+3131T=
ENST00000381340.8:c.4630+3131T= MANE Select ENSP00000370744.3:n.4630+3131T=
NM_002223.2:c.4630+3131T= NP_002214.2:n.4630+3131T=
NM_002223.3:c.4630+3131T= NP_002214.2:n.4630+3131T=
ENST00000381340.7:c.4630+3131T= ENSP00000370744.3:n.4630+3131T=
XM_011520645.1:c.4078+3131T= XP_011518947.1:n.4078+3131T=
XM_011520646.1:c.3697+3131T= XP_011518948.1:n.3697+3131T=
XM_017019266.1:c.4690+3131T= XP_016874755.1:n.4690+3131T=
XM_017019267.1:c.4624+3131T= XP_016874756.1:n.4624+3131T=
XM_017019269.2:c.4690+3131T= XP_016874758.1:n.4690+3131T=
XR_001748686.2:n.5106+3131T=
XR_001748687.1:n.5106+3131T=
XR_931288.1:n.5046+3131T=