Canonical Allele Identifier: CA239077

Gene: FREM2

Linked Data

• ClinVar Variation Id: 193532
• ClinVar RCV Id: RCV000173606 ; RCV000341512 ; RCV000872037 ; RCV003907554
• dbSNP Id: rs41292753
• ExAC: 13:39263609 C / T
• gnomAD v2: 13-39263609-C-T
• gnomAD v3: 13-38689472-C-T
• gnomAD v4: 13-38689472-C-T
• MyVariant Identifiers: chr13:g.39263609C>T (hg19) ; chr13:g.38689472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38689472C>T , CM000675.2:g.38689472C>T	GRCh38
NC_000013.10:g.39263609C>T , CM000675.1:g.39263609C>T	GRCh37
NC_000013.9:g.38161609C>T	NCBI36
NG_008125.2:g.7437C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.2128C>T MANE Select	ENSP00000280481.7:p.Arg710Cys
ENST00000280481.8:c.2128C>T	ENSP00000280481.7:p.Arg710Cys
NM_207361.5:c.2128C>T	NP_997244.4:p.Arg710Cys
XM_011535057.1:c.2128C>T	XP_011533359.1:p.Arg710Cys
XR_941571.1:n.2436C>T
XM_017020554.1:c.2128C>T	XP_016876043.1:p.Arg710Cys
XR_941571.2:n.2432C>T
NM_207361.6:c.2128C>T MANE Select	NP_997244.4:p.Arg710Cys