Canonical Allele Identifier: CA6955656
Gene: FREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 523570
ClinVar RCV Id: RCV000627019 RCV002509476 RCV003727790
dbSNP Id: rs767978562
ExAC: 13:39425230 C / T
gnomAD v2: 13-39425230-C-T
gnomAD v3: 13-38851093-C-T
gnomAD v4: 13-38851093-C-T
MyVariant Identifiers: chr13:g.39425230C>T (hg19) chr13:g.38851093C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.38851093C>T , CM000675.2:g.38851093C>T GRCh38
NC_000013.10:g.39425230C>T , CM000675.1:g.39425230C>T GRCh37
NC_000013.9:g.38323230C>T NCBI36
NG_008125.2:g.169058C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000280481.9:c.6727C>T MANE Select ENSP00000280481.7:p.Arg2243Ter
ENST00000280481.8:c.6727C>T ENSP00000280481.7:p.Arg2243Ter
NM_207361.5:c.6727C>T NP_997244.4:p.Arg2243Ter
XM_011535057.1:c.6727C>T XP_011533359.1:p.Arg2243Ter
NM_207361.6:c.6727C>T MANE Select NP_997244.4:p.Arg2243Ter
Search 100 bp 5'
Search 100 bp 3'