Canonical Allele Identifier: CA6955203

Gene: FREM2

Linked Data

• ClinVar Variation Id: 311989
• ClinVar RCV Id: RCV000391801 ; RCV000946101
• dbSNP Id: rs375059201
• ExAC: 13:39338436 T / G
• gnomAD v2: 13-39338436-T-G
• gnomAD v3: 13-38764299-T-G
• gnomAD v4: 13-38764299-T-G
• MyVariant Identifiers: chr13:g.39338436T>G (hg19) ; chr13:g.38764299T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38764299T>G , CM000675.2:g.38764299T>G	GRCh38
NC_000013.10:g.39338436T>G , CM000675.1:g.39338436T>G	GRCh37
NC_000013.9:g.38236436T>G	NCBI36
NG_008125.2:g.82264T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.5264-5T>G MANE Select	ENSP00000280481.7:n.5264-5T>G
ENST00000280481.8:c.5264-5T>G	ENSP00000280481.7:n.5264-5T>G
NM_207361.5:c.5264-5T>G	NP_997244.4:n.5264-5T>G
XM_011535057.1:c.5264-5T>G	XP_011533359.1:n.5264-5T>G
XR_941571.1:n.5572-5T>G
XR_941571.2:n.5568-5T>G
NM_207361.6:c.5264-5T>G MANE Select	NP_997244.4:n.5264-5T>G