Canonical Allele Identifier: CA185953
Gene: CRB2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.123370950C>T
GRCh37 chr9:g.126133229C>T
Revel Score:
ENST00000359999 0.798
ENST00000373631 (MANE Select) 0.798
ENST00000373629 0.798
gnomAD v2:
9:126133229 C / T
gnomAD v3:
9:123370950 C / T
gnomAD v4:
chr9-123370950-C-T
Joint Max Group AF 0.0000069 (NFE)
Exomes Max Group AF 0.00000654 (NFE)
ClinVar RCV:
RCV000157662
ClinVar Variation:
180707
dbSNP:
730880377
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123370950C>T , CM000671.2:g.123370950C>T GRCh38
NC_000009.11:g.126133229C>T , CM000671.1:g.126133229C>T GRCh37
NC_000009.10:g.125173050C>T NCBI36
NG_051311.1:g.21886C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.1897C>T MANE Select ENSP00000362734.3:p.Arg633Trp
ENST00000359999.7:c.1897C>T ENSP00000353092.3:p.Arg633Trp
ENST00000373631.7:c.1897C>T ENSP00000362734.3:p.Arg633Trp
ENST00000460253.1:c.901C>T ENSP00000435279.1:p.Arg301Trp
NM_173689.6:c.1897C>T NP_775960.4:p.Arg633Trp
NR_104603.1:n.1011C>T
XM_005251934.1:c.901C>T XP_005251991.1:p.Arg301Trp
XM_011518556.1:c.1897C>T XP_011516858.1:p.Arg633Trp
XM_011518557.1:c.1702C>T XP_011516859.1:p.Arg568Trp
XM_011518558.1:c.1702C>T XP_011516860.1:p.Arg568Trp
XM_005251934.3:c.901C>T XP_005251991.1:p.Arg301Trp
XM_011518556.3:c.1897C>T XP_011516858.1:p.Arg633Trp
XM_011518557.3:c.1702C>T XP_011516859.1:p.Arg568Trp
XM_011518558.3:c.1702C>T XP_011516860.1:p.Arg568Trp
NM_173689.7:c.1897C>T MANE Select NP_775960.4:p.Arg633Trp
NR_104603.2:n.1011C>T
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