Canonical Allele Identifier: CA2013870
Gene: FRZB HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.182834857G>A
GRCh37 chr2:g.183699584G>A
Revel Score:
ENST00000295113 (MANE Select) 0.295
gnomAD v2:
2:183699584 G / A
gnomAD v3:
2:182834857 G / A
gnomAD v4:
chr2-182834857-G-A
Joint Max Group AF 0.00014106 (AMR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00017173 (AMR)
dbSNP:
7775
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.970C>T MANE Select ENSP00000295113.4:p.Arg324Cys
ENST00000295113.4:c.970C>T ENSP00000295113.4:p.Arg324Cys
NM_001463.3:c.970C>T NP_001454.2:p.Arg324Cys
NM_001463.4:c.970C>T MANE Select NP_001454.2:p.Arg324Cys
Search 100 bp 5'
Search 100 bp 3'