Canonical Allele Identifier: CA239067

Gene: FREM2

Linked Data

• ClinVar Variation Id: 193527
• ClinVar RCV Id: RCV000173601 ; RCV001109537 ; RCV001818410 ; RCV003965246
• dbSNP Id: rs370018440
• ExAC: 13:39261658 T / C
• gnomAD v2: 13-39261658-T-C
• gnomAD v3: 13-38687521-T-C
• gnomAD v4: 13-38687521-T-C
• MyVariant Identifiers: chr13:g.39261658T>C (hg19) ; chr13:g.38687521T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38687521T>C , CM000675.2:g.38687521T>C	GRCh38
NC_000013.10:g.39261658T>C , CM000675.1:g.39261658T>C	GRCh37
NC_000013.9:g.38159658T>C	NCBI36
NG_008125.2:g.5486T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.177T>C MANE Select	ENSP00000280481.7:p.Gly59=
ENST00000280481.8:c.177T>C	ENSP00000280481.7:p.Gly59=
NM_207361.5:c.177T>C	NP_997244.4:p.Gly59=
XM_011535057.1:c.177T>C	XP_011533359.1:p.Gly59=
XR_941571.1:n.485T>C
XM_017020554.1:c.177T>C	XP_016876043.1:p.Gly59=
XR_941571.2:n.481T>C
NM_207361.6:c.177T>C MANE Select	NP_997244.4:p.Gly59=