Canonical Allele Identifier: CA6954568

Gene: FREM2

Linked Data

• ClinVar Variation Id: 311956
• ClinVar RCV Id: RCV000302444 ; RCV003727662
• dbSNP Id: rs533231784
• ExAC: 13:39263695 A / G
• gnomAD v2: 13-39263695-A-G
• gnomAD v3: 13-38689558-A-G
• gnomAD v4: 13-38689558-A-G
• MyVariant Identifiers: chr13:g.39263695A>G (hg19) ; chr13:g.38689558A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38689558A>G , CM000675.2:g.38689558A>G	GRCh38
NC_000013.10:g.39263695A>G , CM000675.1:g.39263695A>G	GRCh37
NC_000013.9:g.38161695A>G	NCBI36
NG_008125.2:g.7523A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.2214A>G MANE Select	ENSP00000280481.7:p.Leu738=
ENST00000280481.8:c.2214A>G	ENSP00000280481.7:p.Leu738=
NM_207361.5:c.2214A>G	NP_997244.4:p.Leu738=
XM_011535057.1:c.2214A>G	XP_011533359.1:p.Leu738=
XR_941571.1:n.2522A>G
XM_017020554.1:c.2214A>G	XP_016876043.1:p.Leu738=
XR_941571.2:n.2518A>G
NM_207361.6:c.2214A>G MANE Select	NP_997244.4:p.Leu738=