Canonical Allele Identifier: CA6955309

Gene: FREM2

Linked Data

• ClinVar Variation Id: 289621
• ClinVar RCV Id: RCV000290135 ; RCV000373356 ; RCV001701935
• dbSNP Id: rs148794835
• ExAC: 13:39357198 T / C
• gnomAD v2: 13-39357198-T-C
• gnomAD v3: 13-38783061-T-C
• gnomAD v4: 13-38783061-T-C
• MyVariant Identifiers: chr13:g.39357198T>C (hg19) ; chr13:g.38783061T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38783061T>C , CM000675.2:g.38783061T>C	GRCh38
NC_000013.10:g.39357198T>C , CM000675.1:g.39357198T>C	GRCh37
NC_000013.9:g.38255198T>C	NCBI36
NG_008125.2:g.101026T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.5642-9T>C MANE Select	ENSP00000280481.7:n.5642-9T>C
ENST00000280481.8:c.5642-9T>C	ENSP00000280481.7:n.5642-9T>C
NM_207361.5:c.5642-9T>C	NP_997244.4:n.5642-9T>C
XM_011535057.1:c.5642-9T>C	XP_011533359.1:n.5642-9T>C
XR_941571.1:n.5950-9T>C
XR_941571.2:n.5946-9T>C
NM_207361.6:c.5642-9T>C MANE Select	NP_997244.4:n.5642-9T>C