Canonical Allele Identifier: CA199643130

Gene: CRB2

Linked Data

• dbSNP Id: rs1005324634
• gnomAD v2: 9-126139335-C-T
• gnomAD v3: 9-123377056-C-T
• gnomAD v4: 9-123377056-C-T
• MyVariant Identifiers: chr9:g.126139335C>T (hg19) ; chr9:g.123377056C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377056C>T , CM000671.2:g.123377056C>T	GRCh38
NC_000009.11:g.126139335C>T , CM000671.1:g.126139335C>T	GRCh37
NC_000009.10:g.125179156C>T	NCBI36
NG_051311.1:g.27992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3852C>T MANE Select	ENSP00000362734.3:p.Leu1284=
ENST00000373631.7:c.3852C>T	ENSP00000362734.3:p.Leu1284=
ENST00000460253.1:c.2856C>T	ENSP00000435279.1:p.Leu952=
NM_173689.6:c.3852C>T	NP_775960.4:p.Leu1284=
NR_104603.1:n.2966C>T
XM_005251934.1:c.2856C>T	XP_005251991.1:p.Leu952=
XM_011518556.1:c.3825C>T	XP_011516858.1:p.Leu1275=
XM_011518557.1:c.3657C>T	XP_011516859.1:p.Leu1219=
XM_011518558.1:c.3657C>T	XP_011516860.1:p.Leu1219=
XM_005251934.3:c.2856C>T	XP_005251991.1:p.Leu952=
XM_011518556.3:c.3825C>T	XP_011516858.1:p.Leu1275=
XM_011518557.3:c.3657C>T	XP_011516859.1:p.Leu1219=
XM_011518558.3:c.3657C>T	XP_011516860.1:p.Leu1219=
NM_173689.7:c.3852C>T MANE Select	NP_775960.4:p.Leu1284=
NR_104603.2:n.2966C>T