Canonical Allele Identifier: CA185952
Gene: CRB2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.123371070A>C
GRCh37 chr9:g.126133349A>C
Revel Score:
ENST00000359999 0.775
ENST00000373631 (MANE Select) 0.775
ENST00000373629 0.775
gnomAD v2:
9:126133349 A / C
gnomAD v3:
9:123371070 A / C
gnomAD v4:
chr9-123371070-A-C
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
ClinVar RCV:
RCV000157661
RCV000256019
ClinVar Variation:
180706
dbSNP:
730880300
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123371070A>C , CM000671.2:g.123371070A>C GRCh38
NC_000009.11:g.126133349A>C , CM000671.1:g.126133349A>C GRCh37
NC_000009.10:g.125173170A>C NCBI36
NG_051311.1:g.22006A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.1928A>C MANE Select ENSP00000362734.3:p.Glu643Ala
ENST00000359999.7:c.1928A>C ENSP00000353092.3:p.Glu643Ala
ENST00000373631.7:c.1928A>C ENSP00000362734.3:p.Glu643Ala
ENST00000460253.1:c.932A>C ENSP00000435279.1:p.Glu311Ala
NM_173689.6:c.1928A>C NP_775960.4:p.Glu643Ala
NR_104603.1:n.1042A>C
XM_005251934.1:c.932A>C XP_005251991.1:p.Glu311Ala
XM_011518556.1:c.1928A>C XP_011516858.1:p.Glu643Ala
XM_011518557.1:c.1733A>C XP_011516859.1:p.Glu578Ala
XM_011518558.1:c.1733A>C XP_011516860.1:p.Glu578Ala
XM_005251934.3:c.932A>C XP_005251991.1:p.Glu311Ala
XM_011518556.3:c.1928A>C XP_011516858.1:p.Glu643Ala
XM_011518557.3:c.1733A>C XP_011516859.1:p.Glu578Ala
XM_011518558.3:c.1733A>C XP_011516860.1:p.Glu578Ala
NM_173689.7:c.1928A>C MANE Select NP_775960.4:p.Glu643Ala
NR_104603.2:n.1042A>C
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