Canonical Allele Identifier: CA10639529

Gene: FREM2

Linked Data

• ClinVar Variation Id: 312094
• ClinVar RCV Id: RCV000358457 ; RCV003391119
• dbSNP Id: rs185608262
• gnomAD v2: 13-39459831-C-T
• gnomAD v3: 13-38885694-C-T
• gnomAD v4: 13-38885694-C-T
• MyVariant Identifiers: chr13:g.39459831C>T (hg19) ; chr13:g.38885694C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38885694C>T , CM000675.2:g.38885694C>T	GRCh38
NC_000013.10:g.39459831C>T , CM000675.1:g.39459831C>T	GRCh37
NC_000013.9:g.38357831C>T	NCBI36
NG_008125.2:g.203659C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.*4907C>T MANE Select	ENSP00000280481.7:n.*4907C>T
ENST00000280481.8:c.*4907C>T	ENSP00000280481.7:n.*4907C>T
NM_207361.5:c.*4907C>T	NP_997244.4:n.*4907C>T
NM_207361.6:c.*4907C>T MANE Select	NP_997244.4:n.*4907C>T