Canonical Allele Identifier: CA368533493

Gene: TFR2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.848A>T MANE Select	ENSP00000223051.3:p.Lys283Met
ENST00000223051.7:c.848A>T	ENSP00000223051.3:p.Lys283Met
ENST00000431692.5:c.848A>T	ENSP00000413905.1:p.Lys283Met
ENST00000462090.5:n.89A>T
ENST00000462107.1:c.848A>T	ENSP00000420525.1:p.Lys283Met
ENST00000465294.5:n.853A>T
ENST00000473374.5:n.298A>T
ENST00000473571.1:n.302A>T
ENST00000475011.1:n.377A>T
ENST00000476304.5:n.469A>T
ENST00000490084.5:c.103A>T
NM_001206855.1:c.335A>T	NP_001193784.1:p.Lys112Met
NM_003227.3:c.848A>T	NP_003218.2:p.Lys283Met
XM_005250553.3:c.848A>T	XP_005250610.1:p.Lys283Met
XM_005250554.3:c.848A>T	XP_005250611.1:p.Lys283Met
XR_927814.1:n.583T>A
NM_001206855.2:c.335A>T	NP_001193784.1:p.Lys112Met
XM_005250553.4:c.848A>T	XP_005250610.1:p.Lys283Met
XM_017012573.1:c.848A>T	XP_016868062.1:p.Lys283Met
NM_003227.4:c.848A>T MANE Select	NP_003218.2:p.Lys283Met
NM_001206855.3:c.335A>T	NP_001193784.1:p.Lys112Met