Canonical Allele Identifier: CA6954225

Gene: FREM2

Linked Data

• ClinVar Variation Id: 311938
• ClinVar RCV Id: RCV000311247 ; RCV002494973 ; RCV003105864
• dbSNP Id: rs148774506
• ExAC: 13:39262013 C / A
• gnomAD v2: 13-39262013-C-A
• gnomAD v3: 13-38687876-C-A
• gnomAD v4: 13-38687876-C-A
• MyVariant Identifiers: chr13:g.39262013C>A (hg19) ; chr13:g.38687876C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38687876C>A , CM000675.2:g.38687876C>A	GRCh38
NC_000013.10:g.39262013C>A , CM000675.1:g.39262013C>A	GRCh37
NC_000013.9:g.38160013C>A	NCBI36
NG_008125.2:g.5841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.532C>A MANE Select	ENSP00000280481.7:p.Gln178Lys
ENST00000280481.8:c.532C>A	ENSP00000280481.7:p.Gln178Lys
NM_207361.5:c.532C>A	NP_997244.4:p.Gln178Lys
XM_011535057.1:c.532C>A	XP_011533359.1:p.Gln178Lys
XR_941571.1:n.840C>A
XM_017020554.1:c.532C>A	XP_016876043.1:p.Gln178Lys
XR_941571.2:n.836C>A
NM_207361.6:c.532C>A MANE Select	NP_997244.4:p.Gln178Lys