Canonical Allele Identifier: CA349750629
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs1695552553
gnomAD v4: 2-182838524-C-G
MyVariant Identifiers: chr2:g.183703252C>G (hg19) chr2:g.182838524C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838524C>G , CM000664.2:g.182838524C>G GRCh38
NC_000002.11:g.183703252C>G , CM000664.1:g.183703252C>G GRCh37
NC_000002.10:g.183411497C>G NCBI36
NG_017197.1:g.33247G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.682G>C MANE Select ENSP00000295113.4:p.Val228Leu
ENST00000295113.4:c.682G>C ENSP00000295113.4:p.Val228Leu
NM_001463.3:c.682G>C NP_001454.2:p.Val228Leu
NM_001463.4:c.682G>C MANE Select NP_001454.2:p.Val228Leu
Search 100 bp 5'
Search 100 bp 3'