Canonical Allele Identifier: CA467091274
Gene: CRB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.126139330A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123377051A>C , CM000671.2:g.123377051A>C GRCh38
NC_000009.11:g.126139330A>C , CM000671.1:g.126139330A>C GRCh37
NC_000009.10:g.125179151A>C NCBI36
NG_051311.1:g.27987A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.3847A>C MANE Select ENSP00000362734.3:p.Arg1283=
ENST00000373631.7:c.3847A>C ENSP00000362734.3:p.Arg1283=
ENST00000460253.1:c.2851A>C ENSP00000435279.1:p.Arg951=
NM_173689.6:c.3847A>C NP_775960.4:p.Arg1283=
NR_104603.1:n.2961A>C
XM_005251934.1:c.2851A>C XP_005251991.1:p.Arg951=
XM_011518556.1:c.3820A>C XP_011516858.1:p.Arg1274=
XM_011518557.1:c.3652A>C XP_011516859.1:p.Arg1218=
XM_011518558.1:c.3652A>C XP_011516860.1:p.Arg1218=
XM_005251934.3:c.2851A>C XP_005251991.1:p.Arg951=
XM_011518556.3:c.3820A>C XP_011516858.1:p.Arg1274=
XM_011518557.3:c.3652A>C XP_011516859.1:p.Arg1218=
XM_011518558.3:c.3652A>C XP_011516860.1:p.Arg1218=
NM_173689.7:c.3847A>C MANE Select NP_775960.4:p.Arg1283=
NR_104603.2:n.2961A>C