Canonical Allele Identifier: CA6955972

Gene: FREM2

Linked Data

• ClinVar Variation Id: 312020
• ClinVar RCV Id: RCV000283320 ; RCV003727666
• dbSNP Id: rs116030904
• ExAC: 13:39438560 C / T
• gnomAD v2: 13-39438560-C-T
• gnomAD v3: 13-38864423-C-T
• gnomAD v4: 13-38864423-C-T
• MyVariant Identifiers: chr13:g.39438560C>T (hg19) ; chr13:g.38864423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38864423C>T , CM000675.2:g.38864423C>T	GRCh38
NC_000013.10:g.39438560C>T , CM000675.1:g.39438560C>T	GRCh37
NC_000013.9:g.38336560C>T	NCBI36
NG_008125.2:g.182388C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.7800C>T MANE Select	ENSP00000280481.7:p.Thr2600=
ENST00000280481.8:c.7800C>T	ENSP00000280481.7:p.Thr2600=
NM_207361.5:c.7800C>T	NP_997244.4:p.Thr2600=
NM_207361.6:c.7800C>T MANE Select	NP_997244.4:p.Thr2600=