Canonical Allele Identifier: CA374869719
Gene: CRB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123376944C>A , CM000671.2:g.123376944C>A GRCh38
NC_000009.11:g.126139223C>A , CM000671.1:g.126139223C>A GRCh37
NC_000009.10:g.125179044C>A NCBI36
NG_051311.1:g.27880C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.3740C>A MANE Select ENSP00000362734.3:p.Ala1247Glu
ENST00000373631.7:c.3740C>A ENSP00000362734.3:p.Ala1247Glu
ENST00000460253.1:c.2744C>A ENSP00000435279.1:p.Ala915Glu
NM_173689.6:c.3740C>A NP_775960.4:p.Ala1247Glu
NR_104603.1:n.2854C>A
XM_005251934.1:c.2744C>A XP_005251991.1:p.Ala915Glu
XM_011518556.1:c.3713C>A XP_011516858.1:p.Ala1238Glu
XM_011518557.1:c.3545C>A XP_011516859.1:p.Ala1182Glu
XM_011518558.1:c.3545C>A XP_011516860.1:p.Ala1182Glu
XM_005251934.3:c.2744C>A XP_005251991.1:p.Ala915Glu
XM_011518556.3:c.3713C>A XP_011516858.1:p.Ala1238Glu
XM_011518557.3:c.3545C>A XP_011516859.1:p.Ala1182Glu
XM_011518558.3:c.3545C>A XP_011516860.1:p.Ala1182Glu
NM_173689.7:c.3740C>A MANE Select NP_775960.4:p.Ala1247Glu
NR_104603.2:n.2854C>A