Canonical Allele Identifier: CA6955953

Gene: FREM2

Linked Data

• ClinVar Variation Id: 312019
• ClinVar RCV Id: RCV000380191 ; RCV001089662 ; RCV002056385 ; RCV003910166
• dbSNP Id: rs200997496
• ExAC: 13:39438423 G / T
• gnomAD v2: 13-39438423-G-T
• gnomAD v3: 13-38864286-G-T
• gnomAD v4: 13-38864286-G-T
• MyVariant Identifiers: chr13:g.39438423G>T (hg19) ; chr13:g.38864286G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38864286G>T , CM000675.2:g.38864286G>T	GRCh38
NC_000013.10:g.39438423G>T , CM000675.1:g.39438423G>T	GRCh37
NC_000013.9:g.38336423G>T	NCBI36
NG_008125.2:g.182251G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.7663G>T MANE Select	ENSP00000280481.7:p.Val2555Leu
ENST00000280481.8:c.7663G>T	ENSP00000280481.7:p.Val2555Leu
NM_207361.5:c.7663G>T	NP_997244.4:p.Val2555Leu
NM_207361.6:c.7663G>T MANE Select	NP_997244.4:p.Val2555Leu