Canonical Allele Identifier: CA6956034

Gene: FREM2

Linked Data

• ClinVar Variation Id: 312023
• ClinVar RCV Id: RCV000278483 ; RCV000877312
• dbSNP Id: rs147947821
• ExAC: 13:39446956 G / A
• gnomAD v2: 13-39446956-G-A
• gnomAD v3: 13-38872819-G-A
• gnomAD v4: 13-38872819-G-A
• MyVariant Identifiers: chr13:g.39446956G>A (hg19) ; chr13:g.38872819G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38872819G>A , CM000675.2:g.38872819G>A	GRCh38
NC_000013.10:g.39446956G>A , CM000675.1:g.39446956G>A	GRCh37
NC_000013.9:g.38344956G>A	NCBI36
NG_008125.2:g.190784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.8061G>A MANE Select	ENSP00000280481.7:p.Gly2687=
ENST00000280481.8:c.8061G>A	ENSP00000280481.7:p.Gly2687=
NM_207361.5:c.8061G>A	NP_997244.4:p.Gly2687=
NM_207361.6:c.8061G>A MANE Select	NP_997244.4:p.Gly2687=