Canonical Allele Identifier: CA349750843
Gene: FRZB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.183703308T>G (hg19) chr2:g.182838580T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.626A>C MANE Select ENSP00000295113.4:p.Lys209Thr
ENST00000295113.4:c.626A>C ENSP00000295113.4:p.Lys209Thr
NM_001463.3:c.626A>C NP_001454.2:p.Lys209Thr
NM_001463.4:c.626A>C MANE Select NP_001454.2:p.Lys209Thr
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