Canonical Allele Identifier: CA6955502

Gene: FREM2

Linked Data

• ClinVar Variation Id: 312004
• ClinVar RCV Id: RCV000345849 ; RCV003565402 ; RCV003910165
• dbSNP Id: rs769687764
• ExAC: 13:39422701 G / A
• gnomAD v2: 13-39422701-G-A
• gnomAD v3: 13-38848564-G-A
• gnomAD v4: 13-38848564-G-A
• MyVariant Identifiers: chr13:g.39422701G>A (hg19) ; chr13:g.38848564G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38848564G>A , CM000675.2:g.38848564G>A	GRCh38
NC_000013.10:g.39422701G>A , CM000675.1:g.39422701G>A	GRCh37
NC_000013.9:g.38320701G>A	NCBI36
NG_008125.2:g.166529G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.6273G>A MANE Select	ENSP00000280481.7:p.Ala2091=
ENST00000280481.8:c.6273G>A	ENSP00000280481.7:p.Ala2091=
ENST00000482551.1:n.407G>A
NM_207361.5:c.6273G>A	NP_997244.4:p.Ala2091=
XM_011535057.1:c.6273G>A	XP_011533359.1:p.Ala2091=
NM_207361.6:c.6273G>A MANE Select	NP_997244.4:p.Ala2091=