Canonical Allele Identifier: CA6955673

Gene: FREM2

Linked Data

• ClinVar Variation Id: 283189
• ClinVar RCV Id: RCV000267475 ; RCV001109971 ; RCV003977752
• dbSNP Id: rs749834830
• ExAC: 13:39425814 C / T
• gnomAD v2: 13-39425814-C-T
• gnomAD v3: 13-38851677-C-T
• gnomAD v4: 13-38851677-C-T
• MyVariant Identifiers: chr13:g.39425814C>T (hg19) ; chr13:g.38851677C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38851677C>T , CM000675.2:g.38851677C>T	GRCh38
NC_000013.10:g.39425814C>T , CM000675.1:g.39425814C>T	GRCh37
NC_000013.9:g.38323814C>T	NCBI36
NG_008125.2:g.169642C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.6743-9C>T MANE Select	ENSP00000280481.7:n.6743-9C>T
ENST00000280481.8:c.6743-9C>T	ENSP00000280481.7:n.6743-9C>T
NM_207361.5:c.6743-9C>T	NP_997244.4:n.6743-9C>T
XM_011535057.1:c.6743-9C>T	XP_011533359.1:n.6743-9C>T
NM_207361.6:c.6743-9C>T MANE Select	NP_997244.4:n.6743-9C>T