Canonical Allele Identifier: CA2171765572
Community Standard Title: NM_002225.5(IVD):c.456+2T=
Gene: IVD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40410799T= , CM000677.2:g.40410799T= GRCh38
NC_000015.9:g.40702998T= , CM000677.1:g.40702998T= GRCh37
NC_000015.8:g.38490290T= NCBI36
NG_011986.1:g.10313T=
NG_011986.2:g.10315T=

Transcript Alleles

HGVS Amino-acid Change
NM_002225.5:c.456+2T= MANE Select NP_002216.3:n.456+2T=
ENST00000487418.8:c.456+2T= MANE Select ENSP00000418397.3:n.456+2T=
NM_001159508.1:c.375+2T= NP_001152980.1:n.375+2T=
NM_001159508.2:c.366+2T= NP_001152980.2:n.366+2T=
NM_001159508.3:c.366+2T= NP_001152980.2:n.366+2T=
NM_001354597.2:c.408+2T= NP_001341526.1:n.408+2T=
NM_001354597.3:c.408+2T= NP_001341526.1:n.408+2T=
NM_001354598.2:c.456+2T= NP_001341527.2:n.456+2T=
NM_001354598.3:c.456+2T= NP_001341527.2:n.456+2T=
NM_001354599.2:c.543+2T= NP_001341528.2:n.543+2T=
NM_001354599.3:c.543+2T= NP_001341528.2:n.543+2T=
NM_001354600.2:c.543+2T= NP_001341529.2:n.543+2T=
NM_001354600.3:c.543+2T= NP_001341529.2:n.543+2T=
NM_001354601.2:c.456+2T= NP_001341530.2:n.456+2T=
NM_001354601.3:c.456+2T= NP_001341530.2:n.456+2T=
NM_002225.3:c.465+2T= NP_002216.2:n.465+2T=
NM_002225.4:c.456+2T= NP_002216.3:n.456+2T=
NR_148925.1:n.866+2T=
NR_148925.2:n.868+2T=
ENST00000473112.6:c.215+2T=
ENST00000479013.6:c.375+2T= ENSP00000417990.2:n.375+2T=
ENST00000479013.7:c.366+2T= ENSP00000417990.3:n.366+2T=
ENST00000481262.6:c.62+2T=
ENST00000484250.1:n.79+2T=
ENST00000487418.6:c.465+2T= ENSP00000418397.2:n.465+2T=
ENST00000558610.5:c.408+2T= ENSP00000453821.1:n.408+2T=
ENST00000610693.4:c.552+2T= ENSP00000479359.1:n.552+2T=
ENST00000610693.5:c.543+2T= ENSP00000479359.2:n.543+2T=
ENST00000650656.1:c.375+2T= ENSP00000498731.1:n.375+2T=
ENST00000651168.1:c.465+2T= ENSP00000499074.1:n.465+2T=
XM_005254350.2:c.465+2T= XP_005254407.1:n.465+2T=
XM_005254356.2:c.465+2T= XP_005254413.1:n.465+2T=
XM_006720491.2:c.408+2T= XP_006720554.1:n.408+2T=
XM_006720492.2:c.465+2T= XP_006720555.1:n.465+2T=
XM_006720493.2:c.465+2T= XP_006720556.1:n.465+2T=
XM_006720494.2:c.465+2T= XP_006720557.1:n.465+2T=
XM_006720495.2:c.465+2T= XP_006720558.1:n.465+2T=
XM_006720495.3:c.465+2T= XP_006720558.1:n.465+2T=
XM_011521523.1:c.465+2T= XP_011519825.1:n.465+2T=
XM_011521524.1:c.465+2T= XP_011519826.1:n.465+2T=
XM_017022149.1:c.552+2T= XP_016877638.1:n.552+2T=
XM_017022150.1:c.552+2T= XP_016877639.1:n.552+2T=
XM_017022153.1:c.552+2T= XP_016877642.1:n.552+2T=
XM_017022154.2:c.495+2T= XP_016877643.1:n.495+2T=
XM_017022155.2:c.552+2T= XP_016877644.1:n.552+2T=
XM_017022157.1:c.552+2T= XP_016877646.1:n.552+2T=
XM_017022158.2:c.552+2T= XP_016877647.1:n.552+2T=
XR_001751263.1:n.815+2T=
XR_001751264.1:n.856+2T=
XR_243097.3:n.465+2T=
XR_243098.2:n.465+2T=
XR_429453.2:n.566+2T=