Canonical Allele Identifier: CA1489692

Gene: TFB2M

Linked Data

• ClinVar Variation Id: 740911
• ClinVar RCV Id: RCV000917021
• dbSNP Id: rs112020559
• ExAC: 1:246720759 T / C
• gnomAD v2: 1-246720759-T-C
• gnomAD v3: 1-246557457-T-C
• gnomAD v4: 1-246557457-T-C
• MyVariant Identifiers: chr1:g.246720759T>C (hg19) ; chr1:g.246557457T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.246557457T>C , CM000663.2:g.246557457T>C	GRCh38
NC_000001.10:g.246720759T>C , CM000663.1:g.246720759T>C	GRCh37
NC_000001.9:g.244787382T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366514.5:c.480A>G MANE Select	ENSP00000355471.4:p.Gly160=
ENST00000366514.4:c.480A>G	ENSP00000355471.4:p.Gly160=
NM_022366.2:c.480A>G	NP_071761.1:p.Gly160=
XM_011544248.1:c.403-6155A>G	XP_011542550.1:n.403-6155A>G
XM_011544248.2:c.403-6155A>G	XP_011542550.1:n.403-6155A>G
XM_017002055.1:c.-23-736A>G	XP_016857544.1:n.-23-736A>G
NM_022366.3:c.480A>G MANE Select	NP_071761.1:p.Gly160=