Canonical Allele Identifier: CA6956097

Gene: FREM2

Linked Data

• ClinVar Variation Id: 312028
• ClinVar RCV Id: RCV000406981 ; RCV003727668
• dbSNP Id: rs374250366
• ExAC: 13:39448733 G / A
• gnomAD v2: 13-39448733-G-A
• gnomAD v3: 13-38874596-G-A
• gnomAD v4: 13-38874596-G-A
• MyVariant Identifiers: chr13:g.39448733G>A (hg19) ; chr13:g.38874596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38874596G>A , CM000675.2:g.38874596G>A	GRCh38
NC_000013.10:g.39448733G>A , CM000675.1:g.39448733G>A	GRCh37
NC_000013.9:g.38346733G>A	NCBI36
NG_008125.2:g.192561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.8281+10G>A MANE Select	ENSP00000280481.7:n.8281+10G>A
ENST00000280481.8:c.8281+10G>A	ENSP00000280481.7:n.8281+10G>A
NM_207361.5:c.8281+10G>A	NP_997244.4:n.8281+10G>A
NM_207361.6:c.8281+10G>A MANE Select	NP_997244.4:n.8281+10G>A