Canonical Allele Identifier: CA368533496

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100230625T>G (hg19) ; chr7:g.100633002T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633002T>G , CM000669.2:g.100633002T>G	GRCh38
NC_000007.13:g.100230625T>G , CM000669.1:g.100230625T>G	GRCh37
NC_000007.12:g.100068561T>G	NCBI36
NG_007989.1:g.13549A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.848A>C MANE Select	ENSP00000223051.3:p.Lys283Thr
ENST00000223051.7:c.848A>C	ENSP00000223051.3:p.Lys283Thr
ENST00000431692.5:c.848A>C	ENSP00000413905.1:p.Lys283Thr
ENST00000462090.5:n.89A>C
ENST00000462107.1:c.848A>C	ENSP00000420525.1:p.Lys283Thr
ENST00000465294.5:n.853A>C
ENST00000473374.5:n.298A>C
ENST00000473571.1:n.302A>C
ENST00000475011.1:n.377A>C
ENST00000476304.5:n.469A>C
ENST00000490084.5:c.103A>C
NM_001206855.1:c.335A>C	NP_001193784.1:p.Lys112Thr
NM_003227.3:c.848A>C	NP_003218.2:p.Lys283Thr
XM_005250553.3:c.848A>C	XP_005250610.1:p.Lys283Thr
XM_005250554.3:c.848A>C	XP_005250611.1:p.Lys283Thr
XR_927814.1:n.583T>G
NM_001206855.2:c.335A>C	NP_001193784.1:p.Lys112Thr
XM_005250553.4:c.848A>C	XP_005250610.1:p.Lys283Thr
XM_017012573.1:c.848A>C	XP_016868062.1:p.Lys283Thr
NM_003227.4:c.848A>C MANE Select	NP_003218.2:p.Lys283Thr
NM_001206855.3:c.335A>C	NP_001193784.1:p.Lys112Thr