Canonical Allele Identifier: CA239069

Gene: FREM2

Linked Data

• ClinVar Variation Id: 193528
• ClinVar RCV Id: RCV000173602 ; RCV000353598 ; RCV001818411 ; RCV003965247
• dbSNP Id: rs140101984
• ExAC: 13:39263848 G / A
• gnomAD v2: 13-39263848-G-A
• gnomAD v3: 13-38689711-G-A
• gnomAD v4: 13-38689711-G-A
• COSMIC: COSM234726
• MyVariant Identifiers: chr13:g.39263848G>A (hg19) ; chr13:g.38689711G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38689711G>A , CM000675.2:g.38689711G>A	GRCh38
NC_000013.10:g.39263848G>A , CM000675.1:g.39263848G>A	GRCh37
NC_000013.9:g.38161848G>A	NCBI36
NG_008125.2:g.7676G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.2367G>A MANE Select	ENSP00000280481.7:p.Pro789=
ENST00000280481.8:c.2367G>A	ENSP00000280481.7:p.Pro789=
NM_207361.5:c.2367G>A	NP_997244.4:p.Pro789=
XM_011535057.1:c.2367G>A	XP_011533359.1:p.Pro789=
XR_941571.1:n.2675G>A
XM_017020554.1:c.2367G>A	XP_016876043.1:p.Pro789=
XR_941571.2:n.2671G>A
NM_207361.6:c.2367G>A MANE Select	NP_997244.4:p.Pro789=