Canonical Allele Identifier: CA374869790

Gene: CRB2

Linked Data

• dbSNP Id: rs1217441270
• gnomAD v2: 9-126139259-G-A
• gnomAD v4: 9-123376980-G-A
• MyVariant Identifiers: chr9:g.126139259G>A (hg19) ; chr9:g.123376980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376980G>A , CM000671.2:g.123376980G>A	GRCh38
NC_000009.11:g.126139259G>A , CM000671.1:g.126139259G>A	GRCh37
NC_000009.10:g.125179080G>A	NCBI36
NG_051311.1:g.27916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3776G>A MANE Select	ENSP00000362734.3:p.Ser1259Asn
ENST00000373631.7:c.3776G>A	ENSP00000362734.3:p.Ser1259Asn
ENST00000460253.1:c.2780G>A	ENSP00000435279.1:p.Ser927Asn
NM_173689.6:c.3776G>A	NP_775960.4:p.Ser1259Asn
NR_104603.1:n.2890G>A
XM_005251934.1:c.2780G>A	XP_005251991.1:p.Ser927Asn
XM_011518556.1:c.3749G>A	XP_011516858.1:p.Ser1250Asn
XM_011518557.1:c.3581G>A	XP_011516859.1:p.Ser1194Asn
XM_011518558.1:c.3581G>A	XP_011516860.1:p.Ser1194Asn
XM_005251934.3:c.2780G>A	XP_005251991.1:p.Ser927Asn
XM_011518556.3:c.3749G>A	XP_011516858.1:p.Ser1250Asn
XM_011518557.3:c.3581G>A	XP_011516859.1:p.Ser1194Asn
XM_011518558.3:c.3581G>A	XP_011516860.1:p.Ser1194Asn
NM_173689.7:c.3776G>A MANE Select	NP_775960.4:p.Ser1259Asn
NR_104603.2:n.2890G>A