Canonical Allele Identifier: CA6956187

Gene: FREM2

Linked Data

• ClinVar Variation Id: 312032
• ClinVar RCV Id: RCV000326068 ; RCV003910167 ; RCV003765822
• dbSNP Id: rs182974545
• ExAC: 13:39451394 A / G
• gnomAD v2: 13-39451394-A-G
• gnomAD v3: 13-38877257-A-G
• gnomAD v4: 13-38877257-A-G
• MyVariant Identifiers: chr13:g.39451394A>G (hg19) ; chr13:g.38877257A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38877257A>G , CM000675.2:g.38877257A>G	GRCh38
NC_000013.10:g.39451394A>G , CM000675.1:g.39451394A>G	GRCh37
NC_000013.9:g.38349394A>G	NCBI36
NG_008125.2:g.195222A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.8671+14A>G MANE Select	ENSP00000280481.7:n.8671+14A>G
ENST00000280481.8:c.8671+14A>G	ENSP00000280481.7:n.8671+14A>G
NM_207361.5:c.8671+14A>G	NP_997244.4:n.8671+14A>G
NM_207361.6:c.8671+14A>G MANE Select	NP_997244.4:n.8671+14A>G