Canonical Allele Identifier: CA6955805

Gene: FREM2

Linked Data

• ClinVar Variation Id: 312014
• ClinVar RCV Id: RCV000368136 ; RCV002522286
• dbSNP Id: rs759789024
• ExAC: 13:39433409 A / G
• gnomAD v2: 13-39433409-A-G
• gnomAD v3: 13-38859272-A-G
• gnomAD v4: 13-38859272-A-G
• MyVariant Identifiers: chr13:g.39433409A>G (hg19) ; chr13:g.38859272A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38859272A>G , CM000675.2:g.38859272A>G	GRCh38
NC_000013.10:g.39433409A>G , CM000675.1:g.39433409A>G	GRCh37
NC_000013.9:g.38331409A>G	NCBI36
NG_008125.2:g.177237A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.7216-15A>G MANE Select	ENSP00000280481.7:n.7216-15A>G
ENST00000280481.8:c.7216-15A>G	ENSP00000280481.7:n.7216-15A>G
NM_207361.5:c.7216-15A>G	NP_997244.4:n.7216-15A>G
NM_207361.6:c.7216-15A>G MANE Select	NP_997244.4:n.7216-15A>G