Canonical Allele Identifier: CA6954894

Gene: FREM2

Linked Data

• ClinVar Variation Id: 311970
• ClinVar RCV Id: RCV003765821 ; RCV000369260
• dbSNP Id: rs780268243
• ExAC: 13:39265464 T / C
• gnomAD v2: 13-39265464-T-C
• gnomAD v3: 13-38691327-T-C
• gnomAD v4: 13-38691327-T-C
• MyVariant Identifiers: chr13:g.39265464T>C (hg19) ; chr13:g.38691327T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38691327T>C , CM000675.2:g.38691327T>C	GRCh38
NC_000013.10:g.39265464T>C , CM000675.1:g.39265464T>C	GRCh37
NC_000013.9:g.38163464T>C	NCBI36
NG_008125.2:g.9292T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.3983T>C MANE Select	ENSP00000280481.7:p.Met1328Thr
ENST00000280481.8:c.3983T>C	ENSP00000280481.7:p.Met1328Thr
NM_207361.5:c.3983T>C	NP_997244.4:p.Met1328Thr
XM_011535057.1:c.3983T>C	XP_011533359.1:p.Met1328Thr
XR_941571.1:n.4291T>C
XM_017020554.1:c.3983T>C	XP_016876043.1:p.Met1328Thr
XR_941571.2:n.4287T>C
NM_207361.6:c.3983T>C MANE Select	NP_997244.4:p.Met1328Thr