Canonical Allele Identifier: CA5232402
Gene: CRB2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.123373794G>A
GRCh37 chr9:g.126136073G>A
Revel Score:
ENST00000359999 0.816
ENST00000373631 (MANE Select) 0.816
ENST00000373629 0.816
gnomAD v2:
9:126136073 G / A
gnomAD v3:
9:123373794 G / A
gnomAD v4:
chr9-123373794-G-A
Joint Max Group AF 0.0000258 (AFR)
Genomes Max Group AF 0.00001919 (AFR)
Exomes Max Group AF 0.00001025 (AFR)
ClinVar Allele:
421695
ClinVar RCV:
RCV000494573
ClinVar Variation:
430364
dbSNP:
766470795
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123373794G>A , CM000671.2:g.123373794G>A GRCh38
NC_000009.11:g.126136073G>A , CM000671.1:g.126136073G>A GRCh37
NC_000009.10:g.125175894G>A NCBI36
NG_051311.1:g.24730G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.3263G>A MANE Select ENSP00000362734.3:p.Gly1088Asp
ENST00000359999.7:c.3263G>A ENSP00000353092.3:p.Gly1088Asp
ENST00000373631.7:c.3263G>A ENSP00000362734.3:p.Gly1088Asp
ENST00000460253.1:c.2267G>A ENSP00000435279.1:p.Gly756Asp
NM_173689.6:c.3263G>A NP_775960.4:p.Gly1088Asp
NR_104603.1:n.2377G>A
XM_005251934.1:c.2267G>A XP_005251991.1:p.Gly756Asp
XM_011518556.1:c.3236G>A XP_011516858.1:p.Gly1079Asp
XM_011518557.1:c.3068G>A XP_011516859.1:p.Gly1023Asp
XM_011518558.1:c.3068G>A XP_011516860.1:p.Gly1023Asp
XM_005251934.3:c.2267G>A XP_005251991.1:p.Gly756Asp
XM_011518556.3:c.3236G>A XP_011516858.1:p.Gly1079Asp
XM_011518557.3:c.3068G>A XP_011516859.1:p.Gly1023Asp
XM_011518558.3:c.3068G>A XP_011516860.1:p.Gly1023Asp
NM_173689.7:c.3263G>A MANE Select NP_775960.4:p.Gly1088Asp
NR_104603.2:n.2377G>A
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