Canonical Allele Identifier: CA185950
Gene: CRB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 180700
dbSNP Id: rs202128397

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123370935C>T , CM000671.2:g.123370935C>T GRCh38
NC_000009.11:g.126133214C>T , CM000671.1:g.126133214C>T GRCh37
NC_000009.10:g.125173035C>T NCBI36
NG_051311.1:g.21871C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000373631.8:c.1882C>T MANE Select ENSP00000362734.3:p.Arg628Cys
ENST00000359999.7:c.1882C>T ENSP00000353092.3:p.Arg628Cys
ENST00000373631.7:c.1882C>T ENSP00000362734.3:p.Arg628Cys
ENST00000460253.1:c.886C>T ENSP00000435279.1:p.Arg296Cys
NM_173689.6:c.1882C>T NP_775960.4:p.Arg628Cys
NR_104603.1:n.996C>T
XM_005251934.1:c.886C>T XP_005251991.1:p.Arg296Cys
XM_011518556.1:c.1882C>T XP_011516858.1:p.Arg628Cys
XM_011518557.1:c.1687C>T XP_011516859.1:p.Arg563Cys
XM_011518558.1:c.1687C>T XP_011516860.1:p.Arg563Cys
XM_005251934.3:c.886C>T XP_005251991.1:p.Arg296Cys
XM_011518556.3:c.1882C>T XP_011516858.1:p.Arg628Cys
XM_011518557.3:c.1687C>T XP_011516859.1:p.Arg563Cys
XM_011518558.3:c.1687C>T XP_011516860.1:p.Arg563Cys
NM_173689.7:c.1882C>T MANE Select NP_775960.4:p.Arg628Cys
NR_104603.2:n.996C>T