Canonical Allele Identifier: CA2013871
Gene: FRZB HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.182834857G>T
GRCh37 chr2:g.183699584G>T
Revel Score:
ENST00000295113 (MANE Select) 0.138
gnomAD v2:
2:183699584 G / T
gnomAD v3:
2:182834857 G / T
gnomAD v4:
chr2-182834857-G-T
Joint Max Group AF 0.00003265 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.0000309 (NFE)
dbSNP:
7775
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.970C>A MANE Select ENSP00000295113.4:p.Arg324Ser
ENST00000295113.4:c.970C>A ENSP00000295113.4:p.Arg324Ser
NM_001463.3:c.970C>A NP_001454.2:p.Arg324Ser
NM_001463.4:c.970C>A MANE Select NP_001454.2:p.Arg324Ser
Search 100 bp 5'
Search 100 bp 3'