Canonical Allele Identifier: CA117409
Gene: TAS2R16 HGNC NCBI
COSMIC:
COSM4985186 (not active)
MyVariant.info:
GRCh38 chr7:g.122995119A>C
GRCh37 chr7:g.122635173A>C
Revel Score:
ENST00000249284 (MANE Select) 0.026
gnomAD v2:
7:122635173 A / C
gnomAD v3:
7:122995119 A / C
gnomAD v4:
chr7-122995119-A-C
Joint Max Group AF 0.28453394 (AFR)
Genomes Max Group AF 0.27829773 (AFR)
Exomes Max Group AF 0.28929381 (AFR)
ClinVar Allele:
20372
ClinVar RCV:
RCV000005659
RCV000005660
ClinVar Variation:
5333
dbSNP:
846664
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.122995119A>C , CM000669.2:g.122995119A>C GRCh38
NC_000007.13:g.122635173A>C , CM000669.1:g.122635173A>C GRCh37
NC_000007.12:g.122422409A>C NCBI36
NG_011980.1:g.5582T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000249284.3:c.516T>G MANE Select ENSP00000249284.2:p.Asn172Lys
NM_016945.2:c.516T>G NP_058641.1:p.Asn172Lys
NM_016945.3:c.516T>G MANE Select NP_058641.1:p.Asn172Lys
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