Canonical Allele Identifier: CA374869937
Gene: CRB2 HGNC NCBI

Linked Data

dbSNP Id: rs1208349495

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123377048G>A , CM000671.2:g.123377048G>A GRCh38
NC_000009.11:g.126139327G>A , CM000671.1:g.126139327G>A GRCh37
NC_000009.10:g.125179148G>A NCBI36
NG_051311.1:g.27984G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.3844G>A MANE Select ENSP00000362734.3:p.Glu1282Lys
ENST00000373631.7:c.3844G>A ENSP00000362734.3:p.Glu1282Lys
ENST00000460253.1:c.2848G>A ENSP00000435279.1:p.Glu950Lys
NM_173689.6:c.3844G>A NP_775960.4:p.Glu1282Lys
NR_104603.1:n.2958G>A
XM_005251934.1:c.2848G>A XP_005251991.1:p.Glu950Lys
XM_011518556.1:c.3817G>A XP_011516858.1:p.Glu1273Lys
XM_011518557.1:c.3649G>A XP_011516859.1:p.Glu1217Lys
XM_011518558.1:c.3649G>A XP_011516860.1:p.Glu1217Lys
XM_005251934.3:c.2848G>A XP_005251991.1:p.Glu950Lys
XM_011518556.3:c.3817G>A XP_011516858.1:p.Glu1273Lys
XM_011518557.3:c.3649G>A XP_011516859.1:p.Glu1217Lys
XM_011518558.3:c.3649G>A XP_011516860.1:p.Glu1217Lys
NM_173689.7:c.3844G>A MANE Select NP_775960.4:p.Glu1282Lys
NR_104603.2:n.2958G>A