Canonical Allele Identifier: CA6954842

Gene: FREM2

Linked Data

• ClinVar Variation Id: 311966
• ClinVar RCV Id: RCV000280504 ; RCV003727664
• dbSNP Id: rs530142447
• ExAC: 13:39265219 G / A
• gnomAD v2: 13-39265219-G-A
• gnomAD v3: 13-38691082-G-A
• gnomAD v4: 13-38691082-G-A
• MyVariant Identifiers: chr13:g.39265219G>A (hg19) ; chr13:g.38691082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38691082G>A , CM000675.2:g.38691082G>A	GRCh38
NC_000013.10:g.39265219G>A , CM000675.1:g.39265219G>A	GRCh37
NC_000013.9:g.38163219G>A	NCBI36
NG_008125.2:g.9047G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.3738G>A MANE Select	ENSP00000280481.7:p.Thr1246=
ENST00000280481.8:c.3738G>A	ENSP00000280481.7:p.Thr1246=
NM_207361.5:c.3738G>A	NP_997244.4:p.Thr1246=
XM_011535057.1:c.3738G>A	XP_011533359.1:p.Thr1246=
XR_941571.1:n.4046G>A
XM_017020554.1:c.3738G>A	XP_016876043.1:p.Thr1246=
XR_941571.2:n.4042G>A
NM_207361.6:c.3738G>A MANE Select	NP_997244.4:p.Thr1246=