Canonical Allele Identifier: CA10575686

Gene: CRB2

Linked Data

• ClinVar Variation Id: 180701
• ClinVar RCV Id: RCV000157656 ; RCV000481736 ; RCV001003816 ; RCV002498784 ; RCV002516369 ; RCV003335141
• dbSNP Id: rs879255251
• gnomAD v2: 9-126135887-T-TGGCGCGGCCCCGGCCC
• gnomAD v3: 9-123373608-T-TGGCGCGGCCCCGGCCC
• gnomAD v4: 9-123373608-T-TGGCGCGGCCCCGGCCC
• MyVariant Identifiers: chr9:g.126135899_126135914dup16 (hg19) ; chr9:g.126135903_126135904insGGCGCGGCCCCGGCCC (hg19) ; chr9:g.126135887_126135888insGGCGCGGCCCCGGCCC (hg19) ; chr9:g.123373620_123373635dup16 (hg38) ; chr9:g.123373624_123373625insGGCGCGGCCCCGGCCC (hg38) ; chr9:g.123373608_123373609insGGCGCGGCCCCGGCCC (hg38)
• PubMed: PMID:25557779

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123373620_123373635dup , CM000671.2:g.123373620_123373635dup	GRCh38
NC_000009.11:g.126135899_126135914dup , CM000671.1:g.126135899_126135914dup	GRCh37
NC_000009.10:g.125175720_125175735dup	NCBI36
NG_051311.1:g.24556_24571dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3089_3104dup MANE Select	ENSP00000362734.3:p.Gly1036AlafsTer?
ENST00000359999.7:c.3089_3104dup	ENSP00000353092.3:p.Gly1036AlafsTer?
ENST00000373631.7:c.3089_3104dup	ENSP00000362734.3:p.Gly1036AlafsTer?
ENST00000460253.1:c.2093_2108dup	ENSP00000435279.1:p.Gly704AlafsTer?
NM_173689.6:c.3089_3104dup	NP_775960.4:p.Gly1036AlafsTer?
NR_104603.1:n.2203_2218dup
XM_005251934.1:c.2093_2108dup	XP_005251991.1:p.Gly704AlafsTer?
XM_011518556.1:c.3062_3077dup	XP_011516858.1:p.Gly1027AlafsTer?
XM_011518557.1:c.2894_2909dup	XP_011516859.1:p.Gly971AlafsTer?
XM_011518558.1:c.2894_2909dup	XP_011516860.1:p.Gly971AlafsTer?
XM_005251934.3:c.2093_2108dup	XP_005251991.1:p.Gly704AlafsTer?
XM_011518556.3:c.3062_3077dup	XP_011516858.1:p.Gly1027AlafsTer?
XM_011518557.3:c.2894_2909dup	XP_011516859.1:p.Gly971AlafsTer?
XM_011518558.3:c.2894_2909dup	XP_011516860.1:p.Gly971AlafsTer?
NM_173689.7:c.3089_3104dup MANE Select	NP_775960.4:p.Gly1036AlafsTer?
NR_104603.2:n.2203_2218dup