Canonical Allele Identifier: CA6955112

Gene: FREM2

Linked Data

• ClinVar Variation Id: 311987
• ClinVar RCV Id: RCV000399182 ; RCV002056381 ; RCV004021573
• dbSNP Id: rs546732114
• ExAC: 13:39266471 G / A
• gnomAD v2: 13-39266471-G-A
• gnomAD v3: 13-38692334-G-A
• gnomAD v4: 13-38692334-G-A
• MyVariant Identifiers: chr13:g.39266471G>A (hg19) ; chr13:g.38692334G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38692334G>A , CM000675.2:g.38692334G>A	GRCh38
NC_000013.10:g.39266471G>A , CM000675.1:g.39266471G>A	GRCh37
NC_000013.9:g.38164471G>A	NCBI36
NG_008125.2:g.10299G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.4990G>A MANE Select	ENSP00000280481.7:p.Ala1664Thr
ENST00000280481.8:c.4990G>A	ENSP00000280481.7:p.Ala1664Thr
NM_207361.5:c.4990G>A	NP_997244.4:p.Ala1664Thr
XM_011535057.1:c.4990G>A	XP_011533359.1:p.Ala1664Thr
XR_941571.1:n.5298G>A
XM_017020554.1:c.4990G>A	XP_016876043.1:p.Ala1664Thr
XR_941571.2:n.5294G>A
NM_207361.6:c.4990G>A MANE Select	NP_997244.4:p.Ala1664Thr