Canonical Allele Identifier: CA4386703

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2894312
• ClinVar RCV Id: RCV003750616
• dbSNP Id: rs757450980
• ExAC: 7:100230660 C / T
• gnomAD v2: 7-100230660-C-T
• gnomAD v4: 7-100633037-C-T
• MyVariant Identifiers: chr7:g.100230660C>T (hg19) ; chr7:g.100633037C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633037C>T , CM000669.2:g.100633037C>T	GRCh38
NC_000007.13:g.100230660C>T , CM000669.1:g.100230660C>T	GRCh37
NC_000007.12:g.100068596C>T	NCBI36
NG_007989.1:g.13514G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.813G>A MANE Select	ENSP00000223051.3:p.Leu271=
ENST00000223051.7:c.813G>A	ENSP00000223051.3:p.Leu271=
ENST00000431692.5:c.813G>A	ENSP00000413905.1:p.Leu271=
ENST00000462090.5:n.54G>A
ENST00000462107.1:c.813G>A	ENSP00000420525.1:p.Leu271=
ENST00000465294.5:n.818G>A
ENST00000473374.5:n.263G>A
ENST00000473571.1:n.267G>A
ENST00000475011.1:n.342G>A
ENST00000476304.5:n.434G>A
ENST00000490084.5:c.68G>A
NM_001206855.1:c.300G>A	NP_001193784.1:p.Leu100=
NM_003227.3:c.813G>A	NP_003218.2:p.Leu271=
XM_005250553.3:c.813G>A	XP_005250610.1:p.Leu271=
XM_005250554.3:c.813G>A	XP_005250611.1:p.Leu271=
NM_001206855.2:c.300G>A	NP_001193784.1:p.Leu100=
XM_005250553.4:c.813G>A	XP_005250610.1:p.Leu271=
XM_017012573.1:c.813G>A	XP_016868062.1:p.Leu271=
NM_003227.4:c.813G>A MANE Select	NP_003218.2:p.Leu271=
NM_001206855.3:c.300G>A	NP_001193784.1:p.Leu100=