Canonical Allele Identifier: CA6955656

Gene: FREM2

Linked Data

• ClinVar Variation Id: 523570
• ClinVar RCV Id: RCV000627019 ; RCV002509476 ; RCV003727790
• dbSNP Id: rs767978562
• ExAC: 13:39425230 C / T
• gnomAD v2: 13-39425230-C-T
• gnomAD v3: 13-38851093-C-T
• gnomAD v4: 13-38851093-C-T
• MyVariant Identifiers: chr13:g.39425230C>T (hg19) ; chr13:g.38851093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38851093C>T , CM000675.2:g.38851093C>T	GRCh38
NC_000013.10:g.39425230C>T , CM000675.1:g.39425230C>T	GRCh37
NC_000013.9:g.38323230C>T	NCBI36
NG_008125.2:g.169058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.6727C>T MANE Select	ENSP00000280481.7:p.Arg2243Ter
ENST00000280481.8:c.6727C>T	ENSP00000280481.7:p.Arg2243Ter
NM_207361.5:c.6727C>T	NP_997244.4:p.Arg2243Ter
XM_011535057.1:c.6727C>T	XP_011533359.1:p.Arg2243Ter
NM_207361.6:c.6727C>T MANE Select	NP_997244.4:p.Arg2243Ter