Canonical Allele Identifier: CA2206242
Gene: GPR35 HGNC NCBI
COSMIC:
COSM3758109 (not active)
COSM5829442 (not active)
MyVariant.info:
GRCh38 chr2:g.240630275C>T
GRCh38 chr2:g.240630275_240630299delinsTGGCCATCGCCGTGGACCGCTATGT
GRCh37 chr2:g.241569692C>T
GRCh37 chr2:g.241569692_241569716delinsTGGCCATCGCCGTGGACCGCTATGT
Revel Score:
ENST00000319838 0.246
ENST00000403859 0.246
ENST00000438013 0.246
ENST00000407714 (MANE Select) 0.246
ENST00000430267 0.246
gnomAD v2:
2:241569692 C / T
gnomAD v3:
2:240630275 C / T
gnomAD v4:
chr2-240630275-C-T
Joint Max Group AF 0.21733122 (AFR)
Genomes Max Group AF 0.21831489 (AFR)
Exomes Max Group AF 0.2134629 (AFR)
ClinVar RCV:
RCV001621548
ClinVar Variation:
1234784
dbSNP:
3749171
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240630275C>T , CM000664.2:g.240630275C>T GRCh38
NC_000002.11:g.241569692C>T , CM000664.1:g.241569692C>T GRCh37
NC_000002.10:g.241218365C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000407714.2:c.323C>T MANE Select ENSP00000384263.1:p.Thr108Met
ENST00000319838.10:c.323C>T ENSP00000322731.5:p.Thr108Met
ENST00000319838.9:c.323C>T ENSP00000322731.5:p.Thr108Met
ENST00000403859.1:c.323C>T ENSP00000385140.1:p.Thr108Met
ENST00000407714.1:c.323C>T ENSP00000384263.1:p.Thr108Met
ENST00000430267.2:c.416C>T ENSP00000411788.2:p.Thr139Met
ENST00000438013.3:c.323C>T ENSP00000415890.3:p.Thr108Met
NM_001195381.1:c.416C>T NP_001182310.1:p.Thr139Met
NM_001195382.1:c.416C>T NP_001182311.1:p.Thr139Met
NM_005301.3:c.323C>T NP_005292.2:p.Thr108Met
NM_001195381.2:c.416C>T NP_001182310.1:p.Thr139Met
NM_001195382.2:c.416C>T NP_001182311.1:p.Thr139Met
NM_005301.4:c.323C>T NP_005292.2:p.Thr108Met
NM_001195381.3:c.416C>T NP_001182310.1:p.Thr139Met
NM_001195382.3:c.416C>T NP_001182311.1:p.Thr139Met
NM_001394730.1:c.416C>T NP_001381659.1:p.Thr139Met
NM_005301.5:c.323C>T MANE Select NP_005292.2:p.Thr108Met
Search 100 bp 5'
Search 100 bp 3'