Canonical Allele Identifier: CA240175

Gene: FREM2

Linked Data

• ClinVar Variation Id: 194290
• ClinVar RCV Id: RCV000174626 ; RCV001109974
• dbSNP Id: rs41286130
• ExAC: 13:39432017 G / A
• gnomAD v2: 13-39432017-G-A
• gnomAD v3: 13-38857880-G-A
• gnomAD v4: 13-38857880-G-A
• MyVariant Identifiers: chr13:g.39432017G>A (hg19) ; chr13:g.38857880G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38857880G>A , CM000675.2:g.38857880G>A	GRCh38
NC_000013.10:g.39432017G>A , CM000675.1:g.39432017G>A	GRCh37
NC_000013.9:g.38330017G>A	NCBI36
NG_008125.2:g.175845G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.7062G>A MANE Select	ENSP00000280481.7:p.Thr2354=
ENST00000280481.8:c.7062G>A	ENSP00000280481.7:p.Thr2354=
NM_207361.5:c.7062G>A	NP_997244.4:p.Thr2354=
NM_207361.6:c.7062G>A MANE Select	NP_997244.4:p.Thr2354=