Canonical Allele Identifier: CA368523068

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100224516A>G (hg19) ; chr7:g.100626893A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626893A>G , CM000669.2:g.100626893A>G	GRCh38
NC_000007.13:g.100224516A>G , CM000669.1:g.100224516A>G	GRCh37
NC_000007.12:g.100062452A>G	NCBI36
NG_007989.1:g.19658T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2006T>C MANE Select	ENSP00000223051.3:p.Leu669Pro
ENST00000223051.7:c.2006T>C	ENSP00000223051.3:p.Leu669Pro
ENST00000431692.5:c.*681T>C	ENSP00000413905.1:n.*681T>C
ENST00000461176.1:n.352T>C
ENST00000462090.5:n.1042T>C
ENST00000462107.1:c.2006T>C	ENSP00000420525.1:p.Leu669Pro
ENST00000465294.5:n.1926T>C
ENST00000476304.5:n.1627T>C
ENST00000490084.5:c.1359T>C
NM_001206855.1:c.1493T>C	NP_001193784.1:p.Leu498Pro
NM_003227.3:c.2006T>C	NP_003218.2:p.Leu669Pro
XM_005250553.3:c.2006T>C	XP_005250610.1:p.Leu669Pro
XM_005250554.3:c.2006T>C	XP_005250611.1:p.Leu669Pro
XR_927814.1:n.434-4263A>G
NM_001206855.2:c.1493T>C	NP_001193784.1:p.Leu498Pro
XM_005250553.4:c.2006T>C	XP_005250610.1:p.Leu669Pro
XM_017012573.1:c.2006T>C	XP_016868062.1:p.Leu669Pro
NM_003227.4:c.2006T>C MANE Select	NP_003218.2:p.Leu669Pro
NM_001206855.3:c.1493T>C	NP_001193784.1:p.Leu498Pro