Canonical Allele Identifier: CA467090592
Gene: CRB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.126139245T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123376966T>G , CM000671.2:g.123376966T>G GRCh38
NC_000009.11:g.126139245T>G , CM000671.1:g.126139245T>G GRCh37
NC_000009.10:g.125179066T>G NCBI36
NG_051311.1:g.27902T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.3762T>G MANE Select ENSP00000362734.3:p.Ser1254=
ENST00000373631.7:c.3762T>G ENSP00000362734.3:p.Ser1254=
ENST00000460253.1:c.2766T>G ENSP00000435279.1:p.Ser922=
NM_173689.6:c.3762T>G NP_775960.4:p.Ser1254=
NR_104603.1:n.2876T>G
XM_005251934.1:c.2766T>G XP_005251991.1:p.Ser922=
XM_011518556.1:c.3735T>G XP_011516858.1:p.Ser1245=
XM_011518557.1:c.3567T>G XP_011516859.1:p.Ser1189=
XM_011518558.1:c.3567T>G XP_011516860.1:p.Ser1189=
XM_005251934.3:c.2766T>G XP_005251991.1:p.Ser922=
XM_011518556.3:c.3735T>G XP_011516858.1:p.Ser1245=
XM_011518557.3:c.3567T>G XP_011516859.1:p.Ser1189=
XM_011518558.3:c.3567T>G XP_011516860.1:p.Ser1189=
NM_173689.7:c.3762T>G MANE Select NP_775960.4:p.Ser1254=
NR_104603.2:n.2876T>G