Canonical Allele Identifier: CA239063

Gene: FREM2

Linked Data

• ClinVar Variation Id: 193524
• ClinVar RCV Id: RCV000173598 ; RCV000368546 ; RCV003947465
• dbSNP Id: rs146685625
• ExAC: 13:39264221 T / G
• gnomAD v2: 13-39264221-T-G
• gnomAD v3: 13-38690084-T-G
• gnomAD v4: 13-38690084-T-G
• MyVariant Identifiers: chr13:g.39264221T>G (hg19) ; chr13:g.38690084T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38690084T>G , CM000675.2:g.38690084T>G	GRCh38
NC_000013.10:g.39264221T>G , CM000675.1:g.39264221T>G	GRCh37
NC_000013.9:g.38162221T>G	NCBI36
NG_008125.2:g.8049T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.2740T>G MANE Select	ENSP00000280481.7:p.Cys914Gly
ENST00000280481.8:c.2740T>G	ENSP00000280481.7:p.Cys914Gly
NM_207361.5:c.2740T>G	NP_997244.4:p.Cys914Gly
XM_011535057.1:c.2740T>G	XP_011533359.1:p.Cys914Gly
XR_941571.1:n.3048T>G
XM_017020554.1:c.2740T>G	XP_016876043.1:p.Cys914Gly
XR_941571.2:n.3044T>G
NM_207361.6:c.2740T>G MANE Select	NP_997244.4:p.Cys914Gly