Canonical Allele Identifier: CA10575686
Gene: CRB2 HGNC NCBI

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
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'