Canonical Allele Identifier: CA247857

Gene: FREM2

Linked Data

• ClinVar Variation Id: 198939
• ClinVar RCV Id: RCV000180400 ; RCV002500519 ; RCV004020169
• dbSNP Id: rs374178459
• ExAC: 13:39422700 C / T
• gnomAD v2: 13-39422700-C-T
• gnomAD v3: 13-38848563-C-T
• gnomAD v4: 13-38848563-C-T
• MyVariant Identifiers: chr13:g.39422700C>T (hg19) ; chr13:g.38848563C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38848563C>T , CM000675.2:g.38848563C>T	GRCh38
NC_000013.10:g.39422700C>T , CM000675.1:g.39422700C>T	GRCh37
NC_000013.9:g.38320700C>T	NCBI36
NG_008125.2:g.166528C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.6272C>T MANE Select	ENSP00000280481.7:p.Ala2091Val
ENST00000280481.8:c.6272C>T	ENSP00000280481.7:p.Ala2091Val
ENST00000482551.1:n.406C>T
NM_207361.5:c.6272C>T	NP_997244.4:p.Ala2091Val
XM_011535057.1:c.6272C>T	XP_011533359.1:p.Ala2091Val
NM_207361.6:c.6272C>T MANE Select	NP_997244.4:p.Ala2091Val