Canonical Allele Identifier: CA374869921
Gene: CRB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123377039C>T , CM000671.2:g.123377039C>T GRCh38
NC_000009.11:g.126139318C>T , CM000671.1:g.126139318C>T GRCh37
NC_000009.10:g.125179139C>T NCBI36
NG_051311.1:g.27975C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.3835C>T MANE Select ENSP00000362734.3:p.Pro1279Ser
ENST00000373631.7:c.3835C>T ENSP00000362734.3:p.Pro1279Ser
ENST00000460253.1:c.2839C>T ENSP00000435279.1:p.Pro947Ser
NM_173689.6:c.3835C>T NP_775960.4:p.Pro1279Ser
NR_104603.1:n.2949C>T
XM_005251934.1:c.2839C>T XP_005251991.1:p.Pro947Ser
XM_011518556.1:c.3808C>T XP_011516858.1:p.Pro1270Ser
XM_011518557.1:c.3640C>T XP_011516859.1:p.Pro1214Ser
XM_011518558.1:c.3640C>T XP_011516860.1:p.Pro1214Ser
XM_005251934.3:c.2839C>T XP_005251991.1:p.Pro947Ser
XM_011518556.3:c.3808C>T XP_011516858.1:p.Pro1270Ser
XM_011518557.3:c.3640C>T XP_011516859.1:p.Pro1214Ser
XM_011518558.3:c.3640C>T XP_011516860.1:p.Pro1214Ser
NM_173689.7:c.3835C>T MANE Select NP_775960.4:p.Pro1279Ser
NR_104603.2:n.2949C>T