Canonical Allele Identifier: CA368523059

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2063958
• ClinVar RCV Id: RCV002943098
• gnomAD v4: 7-100626891-T-G
• MyVariant Identifiers: chr7:g.100224514T>G (hg19) ; chr7:g.100626891T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626891T>G , CM000669.2:g.100626891T>G	GRCh38
NC_000007.13:g.100224514T>G , CM000669.1:g.100224514T>G	GRCh37
NC_000007.12:g.100062450T>G	NCBI36
NG_007989.1:g.19660A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2008A>C MANE Select	ENSP00000223051.3:p.Thr670Pro
ENST00000223051.7:c.2008A>C	ENSP00000223051.3:p.Thr670Pro
ENST00000431692.5:c.*683A>C	ENSP00000413905.1:n.*683A>C
ENST00000461176.1:n.354A>C
ENST00000462090.5:n.1044A>C
ENST00000462107.1:c.2008A>C	ENSP00000420525.1:p.Thr670Pro
ENST00000465294.5:n.1928A>C
ENST00000476304.5:n.1629A>C
ENST00000490084.5:c.1361A>C
NM_001206855.1:c.1495A>C	NP_001193784.1:p.Thr499Pro
NM_003227.3:c.2008A>C	NP_003218.2:p.Thr670Pro
XM_005250553.3:c.2008A>C	XP_005250610.1:p.Thr670Pro
XM_005250554.3:c.2008A>C	XP_005250611.1:p.Thr670Pro
XR_927814.1:n.434-4265T>G
NM_001206855.2:c.1495A>C	NP_001193784.1:p.Thr499Pro
XM_005250553.4:c.2008A>C	XP_005250610.1:p.Thr670Pro
XM_017012573.1:c.2008A>C	XP_016868062.1:p.Thr670Pro
NM_003227.4:c.2008A>C MANE Select	NP_003218.2:p.Thr670Pro
NM_001206855.3:c.1495A>C	NP_001193784.1:p.Thr499Pro