Canonical Allele Identifier: CA6954259

Gene: FREM2

Linked Data

• ClinVar Variation Id: 311939
• ClinVar RCV Id: RCV000391970 ; RCV002056377
• dbSNP Id: rs115830086
• ExAC: 13:39262171 T / C
• gnomAD v2: 13-39262171-T-C
• gnomAD v3: 13-38688034-T-C
• gnomAD v4: 13-38688034-T-C
• MyVariant Identifiers: chr13:g.39262171T>C (hg19) ; chr13:g.38688034T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38688034T>C , CM000675.2:g.38688034T>C	GRCh38
NC_000013.10:g.39262171T>C , CM000675.1:g.39262171T>C	GRCh37
NC_000013.9:g.38160171T>C	NCBI36
NG_008125.2:g.5999T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.690T>C MANE Select	ENSP00000280481.7:p.Tyr230=
ENST00000280481.8:c.690T>C	ENSP00000280481.7:p.Tyr230=
NM_207361.5:c.690T>C	NP_997244.4:p.Tyr230=
XM_011535057.1:c.690T>C	XP_011533359.1:p.Tyr230=
XR_941571.1:n.998T>C
XM_017020554.1:c.690T>C	XP_016876043.1:p.Tyr230=
XR_941571.2:n.994T>C
NM_207361.6:c.690T>C MANE Select	NP_997244.4:p.Tyr230=