Canonical Allele Identifier: CA5232321
Gene: CRB2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.123373436A>G
GRCh37 chr9:g.126135715A>G
Revel Score:
ENST00000359999 0.133
ENST00000373631 (MANE Select) 0.133
ENST00000373629 0.133
gnomAD v2:
9:126135715 A / G
gnomAD v3:
9:123373436 A / G
gnomAD v4:
chr9-123373436-A-G
Joint Max Group AF 0.9983913 (NFE)
Genomes Max Group AF 0.99351392 (NFE)
Exomes Max Group AF 0.99834887 (NFE)
ClinVar RCV:
RCV001515957
RCV001664939
ClinVar Variation:
1167062
dbSNP:
2488601
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123373436A>G , CM000671.2:g.123373436A>G GRCh38
NC_000009.11:g.126135715A>G , CM000671.1:g.126135715A>G GRCh37
NC_000009.10:g.125175536A>G NCBI36
NG_051311.1:g.24372A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.2905A>G MANE Select ENSP00000362734.3:p.Thr969Ala
ENST00000359999.7:c.2905A>G ENSP00000353092.3:p.Thr969Ala
ENST00000373631.7:c.2905A>G ENSP00000362734.3:p.Thr969Ala
ENST00000460253.1:c.1909A>G ENSP00000435279.1:p.Thr637Ala
NM_173689.6:c.2905A>G NP_775960.4:p.Thr969Ala
NR_104603.1:n.2019A>G
XM_005251934.1:c.1909A>G XP_005251991.1:p.Thr637Ala
XM_011518556.1:c.2878A>G XP_011516858.1:p.Thr960Ala
XM_011518557.1:c.2710A>G XP_011516859.1:p.Thr904Ala
XM_011518558.1:c.2710A>G XP_011516860.1:p.Thr904Ala
XM_005251934.3:c.1909A>G XP_005251991.1:p.Thr637Ala
XM_011518556.3:c.2878A>G XP_011516858.1:p.Thr960Ala
XM_011518557.3:c.2710A>G XP_011516859.1:p.Thr904Ala
XM_011518558.3:c.2710A>G XP_011516860.1:p.Thr904Ala
NM_173689.7:c.2905A>G MANE Select NP_775960.4:p.Thr969Ala
NR_104603.2:n.2019A>G
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