Canonical Allele Identifier: CA374869918
Gene: CRB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123377037T>G , CM000671.2:g.123377037T>G GRCh38
NC_000009.11:g.126139316T>G , CM000671.1:g.126139316T>G GRCh37
NC_000009.10:g.125179137T>G NCBI36
NG_051311.1:g.27973T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.3833T>G MANE Select ENSP00000362734.3:p.Val1278Gly
ENST00000373631.7:c.3833T>G ENSP00000362734.3:p.Val1278Gly
ENST00000460253.1:c.2837T>G ENSP00000435279.1:p.Val946Gly
NM_173689.6:c.3833T>G NP_775960.4:p.Val1278Gly
NR_104603.1:n.2947T>G
XM_005251934.1:c.2837T>G XP_005251991.1:p.Val946Gly
XM_011518556.1:c.3806T>G XP_011516858.1:p.Val1269Gly
XM_011518557.1:c.3638T>G XP_011516859.1:p.Val1213Gly
XM_011518558.1:c.3638T>G XP_011516860.1:p.Val1213Gly
XM_005251934.3:c.2837T>G XP_005251991.1:p.Val946Gly
XM_011518556.3:c.3806T>G XP_011516858.1:p.Val1269Gly
XM_011518557.3:c.3638T>G XP_011516859.1:p.Val1213Gly
XM_011518558.3:c.3638T>G XP_011516860.1:p.Val1213Gly
NM_173689.7:c.3833T>G MANE Select NP_775960.4:p.Val1278Gly
NR_104603.2:n.2947T>G