Canonical Allele Identifier: CA6956046

Gene: FREM2

Linked Data

• ClinVar Variation Id: 312024
• ClinVar RCV Id: RCV000335915 ; RCV003727667 ; RCV003950059
• dbSNP Id: rs200528879
• ExAC: 13:39447055 A / C
• gnomAD v2: 13-39447055-A-C
• gnomAD v3: 13-38872918-A-C
• gnomAD v4: 13-38872918-A-C
• MyVariant Identifiers: chr13:g.39447055A>C (hg19) ; chr13:g.38872918A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38872918A>C , CM000675.2:g.38872918A>C	GRCh38
NC_000013.10:g.39447055A>C , CM000675.1:g.39447055A>C	GRCh37
NC_000013.9:g.38345055A>C	NCBI36
NG_008125.2:g.190883A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.8160A>C MANE Select	ENSP00000280481.7:p.Pro2720=
ENST00000280481.8:c.8160A>C	ENSP00000280481.7:p.Pro2720=
NM_207361.5:c.8160A>C	NP_997244.4:p.Pro2720=
NM_207361.6:c.8160A>C MANE Select	NP_997244.4:p.Pro2720=