Canonical Allele Identifier: CA6955317
Gene: FREM2 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.38783105G>A
GRCh37 chr13:g.39357242G>A
Revel Score:
ENST00000280481 (MANE Select) 0.100
gnomAD v2:
13:39357242 G / A
gnomAD v3:
13:38783105 G / A
gnomAD v4:
chr13-38783105-G-A
Joint Max Group AF 0.00023699 (SAS)
Genomes Max Group AF 0.00007296 (SAS)
Exomes Max Group AF 0.00023045 (SAS)
ClinVar RCV:
RCV000276477
ClinVar Variation:
311997
dbSNP:
548177107
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.38783105G>A , CM000675.2:g.38783105G>A GRCh38
NC_000013.10:g.39357242G>A , CM000675.1:g.39357242G>A GRCh37
NC_000013.9:g.38255242G>A NCBI36
NG_008125.2:g.101070G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000280481.9:c.5677G>A MANE Select ENSP00000280481.7:p.Val1893Ile
ENST00000280481.8:c.5677G>A ENSP00000280481.7:p.Val1893Ile
NM_207361.5:c.5677G>A NP_997244.4:p.Val1893Ile
XM_011535057.1:c.5677G>A XP_011533359.1:p.Val1893Ile
XR_941571.1:n.5985G>A
XR_941571.2:n.5981G>A
NM_207361.6:c.5677G>A MANE Select NP_997244.4:p.Val1893Ile
Search 100 bp 5'
Search 100 bp 3'