Canonical Allele Identifier: CA6956341

Gene: FREM2

Linked Data

• ClinVar Variation Id: 312038
• ClinVar RCV Id: RCV000280083 ; RCV002522289
• dbSNP Id: rs138154238
• ExAC: 13:39454652 C / T
• gnomAD v2: 13-39454652-C-T
• gnomAD v3: 13-38880515-C-T
• gnomAD v4: 13-38880515-C-T
• MyVariant Identifiers: chr13:g.39454652C>T (hg19) ; chr13:g.38880515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38880515C>T , CM000675.2:g.38880515C>T	GRCh38
NC_000013.10:g.39454652C>T , CM000675.1:g.39454652C>T	GRCh37
NC_000013.9:g.38352652C>T	NCBI36
NG_008125.2:g.198480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.9238C>T MANE Select	ENSP00000280481.7:p.Leu3080=
ENST00000280481.8:c.9238C>T	ENSP00000280481.7:p.Leu3080=
NM_207361.5:c.9238C>T	NP_997244.4:p.Leu3080=
NM_207361.6:c.9238C>T MANE Select	NP_997244.4:p.Leu3080=