Canonical Allele Identifier: CA6955807

Gene: FREM2

Linked Data

• ClinVar Variation Id: 312015
• ClinVar RCV Id: RCV000271894 ; RCV000840844
• dbSNP Id: rs534318261
• ExAC: 13:39433419 C / T
• gnomAD v2: 13-39433419-C-T
• gnomAD v3: 13-38859282-C-T
• gnomAD v4: 13-38859282-C-T
• MyVariant Identifiers: chr13:g.39433419C>T (hg19) ; chr13:g.38859282C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38859282C>T , CM000675.2:g.38859282C>T	GRCh38
NC_000013.10:g.39433419C>T , CM000675.1:g.39433419C>T	GRCh37
NC_000013.9:g.38331419C>T	NCBI36
NG_008125.2:g.177247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280481.9:c.7216-5C>T MANE Select	ENSP00000280481.7:n.7216-5C>T
ENST00000280481.8:c.7216-5C>T	ENSP00000280481.7:n.7216-5C>T
NM_207361.5:c.7216-5C>T	NP_997244.4:n.7216-5C>T
NM_207361.6:c.7216-5C>T MANE Select	NP_997244.4:n.7216-5C>T