Canonical Allele Identifier: CA137114488
Gene: UQCC2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.33711586C>T
GRCh37 chr6:g.33679363C>T
Revel Score:
ENST00000374231 0.150
ENST00000374214 0.150
gnomAD v4:
chr6-33711586-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV003223366
ClinVar Variation:
2499488
dbSNP:
368187806
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33711586C>T , CM000668.2:g.33711586C>T GRCh38
NC_000006.11:g.33679363C>T , CM000668.1:g.33679363C>T GRCh37
NC_000006.10:g.33787341C>T NCBI36
NG_034147.1:g.5166G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000607484.6:c.101G>A MANE Select ENSP00000476140.1:p.Arg34Gln
ENST00000374214.3:c.101G>A ENSP00000363331.3:p.Arg34Gln
ENST00000374231.8:c.99G>A
ENST00000607484.5:c.101G>A ENSP00000476140.1:p.Arg34Gln
NM_032340.3:c.101G>A NP_115716.1:p.Arg34Gln
NM_032340.4:c.101G>A MANE Select NP_115716.1:p.Arg34Gln
Search 100 bp 5'
Search 100 bp 3'