Canonical Allele Identifier: CA61680101
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs374712103
gnomAD v2: 2-183703221-T-C
gnomAD v3: 2-182838493-T-C
gnomAD v4: 2-182838493-T-C
MyVariant Identifiers: chr2:g.183703221T>C (hg19) chr2:g.182838493T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838493T>C , CM000664.2:g.182838493T>C GRCh38
NC_000002.11:g.183703221T>C , CM000664.1:g.183703221T>C GRCh37
NC_000002.10:g.183411466T>C NCBI36
NG_017197.1:g.33278A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.713A>G MANE Select ENSP00000295113.4:p.Tyr238Cys
ENST00000295113.4:c.713A>G ENSP00000295113.4:p.Tyr238Cys
NM_001463.3:c.713A>G NP_001454.2:p.Tyr238Cys
NM_001463.4:c.713A>G MANE Select NP_001454.2:p.Tyr238Cys
Search 100 bp 5'
Search 100 bp 3'