Canonical Allele Identifier: CA6955643

Gene: FREM2

Linked Data

• ClinVar Variation Id: 312011
• ClinVar RCV Id: RCV000391620 ; RCV002522285 ; RCV003957621
• dbSNP Id: rs114333791
• ExAC: 13:39425172 A / G
• gnomAD v2: 13-39425172-A-G
• gnomAD v3: 13-38851035-A-G
• gnomAD v4: 13-38851035-A-G
• COSMIC: COSM1366825
• MyVariant Identifiers: chr13:g.39425172A>G (hg19) ; chr13:g.38851035A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38851035A>G , CM000675.2:g.38851035A>G	GRCh38
NC_000013.10:g.39425172A>G , CM000675.1:g.39425172A>G	GRCh37
NC_000013.9:g.38323172A>G	NCBI36
NG_008125.2:g.169000A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.6669A>G MANE Select	ENSP00000280481.7:p.Gln2223=
ENST00000280481.8:c.6669A>G	ENSP00000280481.7:p.Gln2223=
NM_207361.5:c.6669A>G	NP_997244.4:p.Gln2223=
XM_011535057.1:c.6669A>G	XP_011533359.1:p.Gln2223=
NM_207361.6:c.6669A>G MANE Select	NP_997244.4:p.Gln2223=