Canonical Allele Identifier: CA117342
Gene: FRZB HGNC NCBI
COSMIC:
COSM3736228 (not active)
MyVariant.info:
GRCh38 chr2:g.182834857G>C
GRCh37 chr2:g.183699584G>C
Revel Score:
ENST00000295113 (MANE Select) 0.245
gnomAD v2:
2:183699584 G / C
gnomAD v3:
2:182834857 G / C
gnomAD v4:
chr2-182834857-G-C
Joint Max Group AF 0.2866698 (AFR)
Genomes Max Group AF 0.28389591 (AFR)
Exomes Max Group AF 0.28714062 (AFR)
ClinVar RCV:
RCV000005530
RCV003964794
ClinVar Variation:
5220
dbSNP:
7775
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182834857G>C , CM000664.2:g.182834857G>C GRCh38
NC_000002.11:g.183699584G>C , CM000664.1:g.183699584G>C GRCh37
NC_000002.10:g.183407829G>C NCBI36
NG_017197.1:g.36915C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.970C>G MANE Select ENSP00000295113.4:p.Arg324Gly
ENST00000295113.4:c.970C>G ENSP00000295113.4:p.Arg324Gly
NM_001463.3:c.970C>G NP_001454.2:p.Arg324Gly
NM_001463.4:c.970C>G MANE Select NP_001454.2:p.Arg324Gly
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