Canonical Allele Identifier: CA830506013

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2880243
• ClinVar RCV Id: RCV003750410
• dbSNP Id: rs764877859
• gnomAD v4: 7-100632987-C-T
• MyVariant Identifiers: chr7:g.100230610C>T (hg19) ; chr7:g.100632987C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100632987C>T , CM000669.2:g.100632987C>T	GRCh38
NC_000007.13:g.100230610C>T , CM000669.1:g.100230610C>T	GRCh37
NC_000007.12:g.100068546C>T	NCBI36
NG_007989.1:g.13564G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.849+14G>A MANE Select	ENSP00000223051.3:n.849+14G>A
ENST00000223051.7:c.849+14G>A	ENSP00000223051.3:n.849+14G>A
ENST00000431692.5:c.849+14G>A	ENSP00000413905.1:n.849+14G>A
ENST00000462090.5:n.90+14G>A
ENST00000462107.1:c.849+14G>A	ENSP00000420525.1:n.849+14G>A
ENST00000465294.5:n.854+14G>A
ENST00000473374.5:n.299+14G>A
ENST00000473571.1:n.303+14G>A
ENST00000475011.1:n.392G>A
ENST00000476304.5:n.470+14G>A
ENST00000490084.5:c.104+14G>A
NM_001206855.1:c.336+14G>A	NP_001193784.1:n.336+14G>A
NM_003227.3:c.849+14G>A	NP_003218.2:n.849+14G>A
XM_005250553.3:c.849+14G>A	XP_005250610.1:n.849+14G>A
XM_005250554.3:c.849+14G>A	XP_005250611.1:n.849+14G>A
XR_927814.1:n.568C>T
NM_001206855.2:c.336+14G>A	NP_001193784.1:n.336+14G>A
XM_005250553.4:c.849+14G>A	XP_005250610.1:n.849+14G>A
XM_017012573.1:c.849+14G>A	XP_016868062.1:n.849+14G>A
NM_003227.4:c.849+14G>A MANE Select	NP_003218.2:n.849+14G>A
NM_001206855.3:c.336+14G>A	NP_001193784.1:n.336+14G>A