Canonical Allele Identifier: CA1128947768

Gene: CRB2

Linked Data

• dbSNP Id: rs2042114918
• gnomAD v3: 9-123377098-C-T
• gnomAD v4: 9-123377098-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377098C>T , CM000671.2:g.123377098C>T	GRCh38
NC_000009.11:g.126139377C>T , CM000671.1:g.126139377C>T	GRCh37
NC_000009.10:g.125179198C>T	NCBI36
NG_051311.1:g.28034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.*36C>T MANE Select	ENSP00000362734.3:n.*36C>T
ENST00000373631.7:c.*36C>T	ENSP00000362734.3:n.*36C>T
ENST00000460253.1:c.*36C>T	ENSP00000435279.1:n.*36C>T
NM_173689.6:c.*36C>T	NP_775960.4:n.*36C>T
NR_104603.1:n.3008C>T
XM_005251934.1:c.*36C>T	XP_005251991.1:n.*36C>T
XM_011518556.1:c.*36C>T	XP_011516858.1:n.*36C>T
XM_011518557.1:c.*36C>T	XP_011516859.1:n.*36C>T
XM_011518558.1:c.*36C>T	XP_011516860.1:n.*36C>T
XM_005251934.3:c.*36C>T	XP_005251991.1:n.*36C>T
XM_011518556.3:c.*36C>T	XP_011516858.1:n.*36C>T
XM_011518557.3:c.*36C>T	XP_011516859.1:n.*36C>T
XM_011518558.3:c.*36C>T	XP_011516860.1:n.*36C>T
NM_173689.7:c.*36C>T MANE Select	NP_775960.4:n.*36C>T
NR_104603.2:n.3008C>T