Canonical Allele Identifier: CA6955953
Gene: FREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 312019
ClinVar RCV Id: RCV000380191 RCV001089662 RCV002056385 RCV003910166
dbSNP Id: rs200997496
ExAC: 13:39438423 G / T
gnomAD v2: 13-39438423-G-T
gnomAD v3: 13-38864286-G-T
gnomAD v4: 13-38864286-G-T
MyVariant Identifiers: chr13:g.39438423G>T (hg19) chr13:g.38864286G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.38864286G>T , CM000675.2:g.38864286G>T GRCh38
NC_000013.10:g.39438423G>T , CM000675.1:g.39438423G>T GRCh37
NC_000013.9:g.38336423G>T NCBI36
NG_008125.2:g.182251G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000280481.9:c.7663G>T MANE Select ENSP00000280481.7:p.Val2555Leu
ENST00000280481.8:c.7663G>T ENSP00000280481.7:p.Val2555Leu
NM_207361.5:c.7663G>T NP_997244.4:p.Val2555Leu
NM_207361.6:c.7663G>T MANE Select NP_997244.4:p.Val2555Leu
Search 100 bp 5'
Search 100 bp 3'