Canonical Allele Identifier: CA239073

Gene: FREM2

Linked Data

• ClinVar Variation Id: 193530
• ClinVar RCV Id: RCV000293781 ; RCV000724593 ; RCV001818413 ; RCV003955015
• dbSNP Id: rs139804851
• ExAC: 13:39263061 C / T
• gnomAD v2: 13-39263061-C-T
• gnomAD v3: 13-38688924-C-T
• gnomAD v4: 13-38688924-C-T
• MyVariant Identifiers: chr13:g.39263061C>T (hg19) ; chr13:g.38688924C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38688924C>T , CM000675.2:g.38688924C>T	GRCh38
NC_000013.10:g.39263061C>T , CM000675.1:g.39263061C>T	GRCh37
NC_000013.9:g.38161061C>T	NCBI36
NG_008125.2:g.6889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.1580C>T MANE Select	ENSP00000280481.7:p.Ser527Leu
ENST00000280481.8:c.1580C>T	ENSP00000280481.7:p.Ser527Leu
NM_207361.5:c.1580C>T	NP_997244.4:p.Ser527Leu
XM_011535057.1:c.1580C>T	XP_011533359.1:p.Ser527Leu
XR_941571.1:n.1888C>T
XM_017020554.1:c.1580C>T	XP_016876043.1:p.Ser527Leu
XR_941571.2:n.1884C>T
NM_207361.6:c.1580C>T MANE Select	NP_997244.4:p.Ser527Leu