Canonical Allele Identifier: CA6955578

Gene: FREM2

Linked Data

• ClinVar Variation Id: 284704
• ClinVar RCV Id: RCV000348468 ; RCV000767220 ; RCV000767221
• dbSNP Id: rs114837786
• ExAC: 13:39424294 C / T
• gnomAD v2: 13-39424294-C-T
• gnomAD v3: 13-38850157-C-T
• gnomAD v4: 13-38850157-C-T
• COSMIC: COSM4047529
• MyVariant Identifiers: chr13:g.39424294C>T (hg19) ; chr13:g.38850157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38850157C>T , CM000675.2:g.38850157C>T	GRCh38
NC_000013.10:g.39424294C>T , CM000675.1:g.39424294C>T	GRCh37
NC_000013.9:g.38322294C>T	NCBI36
NG_008125.2:g.168122C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.6499C>T MANE Select	ENSP00000280481.7:p.Arg2167Trp
ENST00000280481.8:c.6499C>T	ENSP00000280481.7:p.Arg2167Trp
ENST00000482551.1:n.633C>T
NM_207361.5:c.6499C>T	NP_997244.4:p.Arg2167Trp
XM_011535057.1:c.6499C>T	XP_011533359.1:p.Arg2167Trp
NM_207361.6:c.6499C>T MANE Select	NP_997244.4:p.Arg2167Trp