Canonical Allele Identifier: CA6956299

Gene: FREM2

Linked Data

• ClinVar Variation Id: 283801
• ClinVar RCV Id: RCV000280744 ; RCV000725336 ; RCV003930086
• dbSNP Id: rs114400765
• ExAC: 13:39454452 C / T
• gnomAD v2: 13-39454452-C-T
• gnomAD v3: 13-38880315-C-T
• gnomAD v4: 13-38880315-C-T
• MyVariant Identifiers: chr13:g.39454452C>T (hg19) ; chr13:g.38880315C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38880315C>T , CM000675.2:g.38880315C>T	GRCh38
NC_000013.10:g.39454452C>T , CM000675.1:g.39454452C>T	GRCh37
NC_000013.9:g.38352452C>T	NCBI36
NG_008125.2:g.198280C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.9038C>T MANE Select	ENSP00000280481.7:p.Thr3013Met
ENST00000280481.8:c.9038C>T	ENSP00000280481.7:p.Thr3013Met
NM_207361.5:c.9038C>T	NP_997244.4:p.Thr3013Met
NM_207361.6:c.9038C>T MANE Select	NP_997244.4:p.Thr3013Met