Canonical Allele Identifier: CA5232620
Gene: CRB2 HGNC NCBI

Linked Data

dbSNP Id: rs774271956

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123377033A>G , CM000671.2:g.123377033A>G GRCh38
NC_000009.11:g.126139312A>G , CM000671.1:g.126139312A>G GRCh37
NC_000009.10:g.125179133A>G NCBI36
NG_051311.1:g.27969A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.3829A>G MANE Select ENSP00000362734.3:p.Lys1277Glu
ENST00000373631.7:c.3829A>G ENSP00000362734.3:p.Lys1277Glu
ENST00000460253.1:c.2833A>G ENSP00000435279.1:p.Lys945Glu
NM_173689.6:c.3829A>G NP_775960.4:p.Lys1277Glu
NR_104603.1:n.2943A>G
XM_005251934.1:c.2833A>G XP_005251991.1:p.Lys945Glu
XM_011518556.1:c.3802A>G XP_011516858.1:p.Lys1268Glu
XM_011518557.1:c.3634A>G XP_011516859.1:p.Lys1212Glu
XM_011518558.1:c.3634A>G XP_011516860.1:p.Lys1212Glu
XM_005251934.3:c.2833A>G XP_005251991.1:p.Lys945Glu
XM_011518556.3:c.3802A>G XP_011516858.1:p.Lys1268Glu
XM_011518557.3:c.3634A>G XP_011516859.1:p.Lys1212Glu
XM_011518558.3:c.3634A>G XP_011516860.1:p.Lys1212Glu
NM_173689.7:c.3829A>G MANE Select NP_775960.4:p.Lys1277Glu
NR_104603.2:n.2943A>G