Canonical Allele Identifier: CA2013929
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs780703473
ExAC: 2:183703099 G / A
gnomAD v2: 2-183703099-G-A
gnomAD v4: 2-182838371-G-A
MyVariant Identifiers: chr2:g.183703099G>A (hg19) chr2:g.182838371G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838371G>A , CM000664.2:g.182838371G>A GRCh38
NC_000002.11:g.183703099G>A , CM000664.1:g.183703099G>A GRCh37
NC_000002.10:g.183411344G>A NCBI36
NG_017197.1:g.33400C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.797+38C>T MANE Select ENSP00000295113.4:n.797+38C>T
ENST00000295113.4:c.797+38C>T ENSP00000295113.4:n.797+38C>T
NM_001463.3:c.797+38C>T NP_001454.2:n.797+38C>T
NM_001463.4:c.797+38C>T MANE Select NP_001454.2:n.797+38C>T
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