Canonical Allele Identifier: CA6954171

Gene: FREM2

Linked Data

• ClinVar Variation Id: 1628444
• ClinVar RCV Id: RCV002123530 ; RCV002494394
• dbSNP Id: rs115510540
• ExAC: 13:39261700 G / A
• gnomAD v2: 13-39261700-G-A
• gnomAD v3: 13-38687563-G-A
• gnomAD v4: 13-38687563-G-A
• MyVariant Identifiers: chr13:g.39261700G>A (hg19) ; chr13:g.38687563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38687563G>A , CM000675.2:g.38687563G>A	GRCh38
NC_000013.10:g.39261700G>A , CM000675.1:g.39261700G>A	GRCh37
NC_000013.9:g.38159700G>A	NCBI36
NG_008125.2:g.5528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.219G>A MANE Select	ENSP00000280481.7:p.Val73=
ENST00000280481.8:c.219G>A	ENSP00000280481.7:p.Val73=
NM_207361.5:c.219G>A	NP_997244.4:p.Val73=
XM_011535057.1:c.219G>A	XP_011533359.1:p.Val73=
XR_941571.1:n.527G>A
XM_017020554.1:c.219G>A	XP_016876043.1:p.Val73=
XR_941571.2:n.523G>A
NM_207361.6:c.219G>A MANE Select	NP_997244.4:p.Val73=