Canonical Allele Identifier: CA6956214

Gene: FREM2

Linked Data

• ClinVar Variation Id: 312033
• ClinVar RCV Id: RCV000359928 ; RCV000919578
• dbSNP Id: rs144702001
• ExAC: 13:39452356 A / G
• gnomAD v2: 13-39452356-A-G
• gnomAD v3: 13-38878219-A-G
• gnomAD v4: 13-38878219-A-G
• MyVariant Identifiers: chr13:g.39452356A>G (hg19) ; chr13:g.38878219A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38878219A>G , CM000675.2:g.38878219A>G	GRCh38
NC_000013.10:g.39452356A>G , CM000675.1:g.39452356A>G	GRCh37
NC_000013.9:g.38350356A>G	NCBI36
NG_008125.2:g.196184A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.8757A>G MANE Select	ENSP00000280481.7:p.Leu2919=
ENST00000280481.8:c.8757A>G	ENSP00000280481.7:p.Leu2919=
NM_207361.5:c.8757A>G	NP_997244.4:p.Leu2919=
NM_207361.6:c.8757A>G MANE Select	NP_997244.4:p.Leu2919=