Canonical Allele Identifier: CA6955509
Gene: FREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 312005
ClinVar RCV Id: RCV002520882
dbSNP Id: rs368450271
ExAC: 13:39422735 C / T
gnomAD v2: 13-39422735-C-T
gnomAD v3: 13-38848598-C-T
gnomAD v4: 13-38848598-C-T
COSMIC: COSM3399361
MyVariant Identifiers: chr13:g.39422735C>T (hg19) chr13:g.38848598C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.38848598C>T , CM000675.2:g.38848598C>T GRCh38
NC_000013.10:g.39422735C>T , CM000675.1:g.39422735C>T GRCh37
NC_000013.9:g.38320735C>T NCBI36
NG_008125.2:g.166563C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000280481.9:c.6307C>T MANE Select ENSP00000280481.7:p.Arg2103Cys
ENST00000280481.8:c.6307C>T ENSP00000280481.7:p.Arg2103Cys
ENST00000482551.1:n.441C>T
NM_207361.5:c.6307C>T NP_997244.4:p.Arg2103Cys
XM_011535057.1:c.6307C>T XP_011533359.1:p.Arg2103Cys
NM_207361.6:c.6307C>T MANE Select NP_997244.4:p.Arg2103Cys
Search 100 bp 5'
Search 100 bp 3'