Canonical Allele Identifier: CA374869768
Gene: CRB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123376970G>C , CM000671.2:g.123376970G>C GRCh38
NC_000009.11:g.126139249G>C , CM000671.1:g.126139249G>C GRCh37
NC_000009.10:g.125179070G>C NCBI36
NG_051311.1:g.27906G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.3766G>C MANE Select ENSP00000362734.3:p.Gly1256Arg
ENST00000373631.7:c.3766G>C ENSP00000362734.3:p.Gly1256Arg
ENST00000460253.1:c.2770G>C ENSP00000435279.1:p.Gly924Arg
NM_173689.6:c.3766G>C NP_775960.4:p.Gly1256Arg
NR_104603.1:n.2880G>C
XM_005251934.1:c.2770G>C XP_005251991.1:p.Gly924Arg
XM_011518556.1:c.3739G>C XP_011516858.1:p.Gly1247Arg
XM_011518557.1:c.3571G>C XP_011516859.1:p.Gly1191Arg
XM_011518558.1:c.3571G>C XP_011516860.1:p.Gly1191Arg
XM_005251934.3:c.2770G>C XP_005251991.1:p.Gly924Arg
XM_011518556.3:c.3739G>C XP_011516858.1:p.Gly1247Arg
XM_011518557.3:c.3571G>C XP_011516859.1:p.Gly1191Arg
XM_011518558.3:c.3571G>C XP_011516860.1:p.Gly1191Arg
NM_173689.7:c.3766G>C MANE Select NP_775960.4:p.Gly1256Arg
NR_104603.2:n.2880G>C