Canonical Allele Identifier: CA6956114

Gene: FREM2

Linked Data

• ClinVar Variation Id: 312029
• ClinVar RCV Id: RCV000309019 ; RCV000950970 ; RCV001820922
• dbSNP Id: rs181564966
• ExAC: 13:39450214 C / T
• gnomAD v2: 13-39450214-C-T
• gnomAD v3: 13-38876077-C-T
• gnomAD v4: 13-38876077-C-T
• MyVariant Identifiers: chr13:g.39450214C>T (hg19) ; chr13:g.38876077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38876077C>T , CM000675.2:g.38876077C>T	GRCh38
NC_000013.10:g.39450214C>T , CM000675.1:g.39450214C>T	GRCh37
NC_000013.9:g.38348214C>T	NCBI36
NG_008125.2:g.194042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.8337C>T MANE Select	ENSP00000280481.7:p.Ser2779=
ENST00000280481.8:c.8337C>T	ENSP00000280481.7:p.Ser2779=
NM_207361.5:c.8337C>T	NP_997244.4:p.Ser2779=
NM_207361.6:c.8337C>T MANE Select	NP_997244.4:p.Ser2779=