Canonical Allele Identifier: CA467090590

Gene: CRB2

Linked Data

• gnomAD v4: 9-123376966-T-C
• MyVariant Identifiers: chr9:g.126139245T>C (hg19)

Genomic Alleles

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

Transcript Alleles

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