Canonical Allele Identifier: CA467090653
Gene: CRB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.126139254C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123376975C>T , CM000671.2:g.123376975C>T GRCh38
NC_000009.11:g.126139254C>T , CM000671.1:g.126139254C>T GRCh37
NC_000009.10:g.125179075C>T NCBI36
NG_051311.1:g.27911C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.3771C>T MANE Select ENSP00000362734.3:p.Thr1257=
ENST00000373631.7:c.3771C>T ENSP00000362734.3:p.Thr1257=
ENST00000460253.1:c.2775C>T ENSP00000435279.1:p.Thr925=
NM_173689.6:c.3771C>T NP_775960.4:p.Thr1257=
NR_104603.1:n.2885C>T
XM_005251934.1:c.2775C>T XP_005251991.1:p.Thr925=
XM_011518556.1:c.3744C>T XP_011516858.1:p.Thr1248=
XM_011518557.1:c.3576C>T XP_011516859.1:p.Thr1192=
XM_011518558.1:c.3576C>T XP_011516860.1:p.Thr1192=
XM_005251934.3:c.2775C>T XP_005251991.1:p.Thr925=
XM_011518556.3:c.3744C>T XP_011516858.1:p.Thr1248=
XM_011518557.3:c.3576C>T XP_011516859.1:p.Thr1192=
XM_011518558.3:c.3576C>T XP_011516860.1:p.Thr1192=
NM_173689.7:c.3771C>T MANE Select NP_775960.4:p.Thr1257=
NR_104603.2:n.2885C>T