Canonical Allele Identifier: CA467090025

Gene: CRB2

Linked Data

• dbSNP Id: rs2042111100
• gnomAD v3: 9-123376888-T-A
• gnomAD v4: 9-123376888-T-A
• MyVariant Identifiers: chr9:g.126139167T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376888T>A , CM000671.2:g.123376888T>A	GRCh38
NC_000009.11:g.126139167T>A , CM000671.1:g.126139167T>A	GRCh37
NC_000009.10:g.125178988T>A	NCBI36
NG_051311.1:g.27824T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3684T>A MANE Select	ENSP00000362734.3:p.Pro1228=
ENST00000373631.7:c.3684T>A	ENSP00000362734.3:p.Pro1228=
ENST00000460253.1:c.2688T>A	ENSP00000435279.1:p.Pro896=
NM_173689.6:c.3684T>A	NP_775960.4:p.Pro1228=
NR_104603.1:n.2798T>A
XM_005251934.1:c.2688T>A	XP_005251991.1:p.Pro896=
XM_011518556.1:c.3657T>A	XP_011516858.1:p.Pro1219=
XM_011518557.1:c.3489T>A	XP_011516859.1:p.Pro1163=
XM_011518558.1:c.3489T>A	XP_011516860.1:p.Pro1163=
XM_005251934.3:c.2688T>A	XP_005251991.1:p.Pro896=
XM_011518556.3:c.3657T>A	XP_011516858.1:p.Pro1219=
XM_011518557.3:c.3489T>A	XP_011516859.1:p.Pro1163=
XM_011518558.3:c.3489T>A	XP_011516860.1:p.Pro1163=
NM_173689.7:c.3684T>A MANE Select	NP_775960.4:p.Pro1228=
NR_104603.2:n.2798T>A