Canonical Allele Identifier: CA5231591
Gene: CRB2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.123363039C>G
GRCh37 chr9:g.126125318C>G
Revel Score:
ENST00000359999 0.203
ENST00000373631 (MANE Select) 0.203
gnomAD v2:
9:126125318 C / G
gnomAD v3:
9:123363039 C / G
gnomAD v4:
chr9-123363039-C-G
Joint Max Group AF 0.00004373 (AFR)
Genomes Max Group AF 0.00001919 (AFR)
Exomes Max Group AF 0.00003983 (AFR)
ClinVar RCV:
RCV001987690
ClinVar Variation:
1446471
dbSNP:
2808415
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123363039C>G , CM000671.2:g.123363039C>G GRCh38
NC_000009.11:g.126125318C>G , CM000671.1:g.126125318C>G GRCh37
NC_000009.10:g.125165139C>G NCBI36
NG_051311.1:g.13975C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.269C>G MANE Select ENSP00000362734.3:p.Thr90Ser
ENST00000359999.7:c.269C>G ENSP00000353092.3:p.Thr90Ser
ENST00000373631.7:c.269C>G ENSP00000362734.3:p.Thr90Ser
NM_173689.6:c.269C>G NP_775960.4:p.Thr90Ser
XM_011518556.1:c.269C>G XP_011516858.1:p.Thr90Ser
XM_011518557.1:c.74C>G XP_011516859.1:p.Thr25Ser
XM_011518558.1:c.74C>G XP_011516860.1:p.Thr25Ser
XM_011518556.3:c.269C>G XP_011516858.1:p.Thr90Ser
XM_011518557.3:c.74C>G XP_011516859.1:p.Thr25Ser
XM_011518558.3:c.74C>G XP_011516860.1:p.Thr25Ser
NM_173689.7:c.269C>G MANE Select NP_775960.4:p.Thr90Ser
Search 100 bp 5'
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