Canonical Allele Identifier: CA2013967
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs760299089
ExAC: 2:183703308 T / A
gnomAD v2: 2-183703308-T-A
gnomAD v4: 2-182838580-T-A
MyVariant Identifiers: chr2:g.183703308T>A (hg19) chr2:g.182838580T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838580T>A , CM000664.2:g.182838580T>A GRCh38
NC_000002.11:g.183703308T>A , CM000664.1:g.183703308T>A GRCh37
NC_000002.10:g.183411553T>A NCBI36
NG_017197.1:g.33191A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.626A>T MANE Select ENSP00000295113.4:p.Lys209Met
ENST00000295113.4:c.626A>T ENSP00000295113.4:p.Lys209Met
NM_001463.3:c.626A>T NP_001454.2:p.Lys209Met
NM_001463.4:c.626A>T MANE Select NP_001454.2:p.Lys209Met
Search 100 bp 5'
Search 100 bp 3'