Canonical Allele Identifier: CA374869558
Gene: CRB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123376859C>G , CM000671.2:g.123376859C>G GRCh38
NC_000009.11:g.126139138C>G , CM000671.1:g.126139138C>G GRCh37
NC_000009.10:g.125178959C>G NCBI36
NG_051311.1:g.27795C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.3655C>G MANE Select ENSP00000362734.3:p.Pro1219Ala
ENST00000373631.7:c.3655C>G ENSP00000362734.3:p.Pro1219Ala
ENST00000460253.1:c.2659C>G ENSP00000435279.1:p.Pro887Ala
NM_173689.6:c.3655C>G NP_775960.4:p.Pro1219Ala
NR_104603.1:n.2769C>G
XM_005251934.1:c.2659C>G XP_005251991.1:p.Pro887Ala
XM_011518556.1:c.3628C>G XP_011516858.1:p.Pro1210Ala
XM_011518557.1:c.3460C>G XP_011516859.1:p.Pro1154Ala
XM_011518558.1:c.3460C>G XP_011516860.1:p.Pro1154Ala
XM_005251934.3:c.2659C>G XP_005251991.1:p.Pro887Ala
XM_011518556.3:c.3628C>G XP_011516858.1:p.Pro1210Ala
XM_011518557.3:c.3460C>G XP_011516859.1:p.Pro1154Ala
XM_011518558.3:c.3460C>G XP_011516860.1:p.Pro1154Ala
NM_173689.7:c.3655C>G MANE Select NP_775960.4:p.Pro1219Ala
NR_104603.2:n.2769C>G