Canonical Allele Identifier: CA456894278

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100224911G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627288G>A , CM000669.2:g.100627288G>A	GRCh38
NC_000007.13:g.100224911G>A , CM000669.1:g.100224911G>A	GRCh37
NC_000007.12:g.100062847G>A	NCBI36
NG_007989.1:g.19263C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1971C>T MANE Select	ENSP00000223051.3:p.Leu657=
ENST00000223051.7:c.1971C>T	ENSP00000223051.3:p.Leu657=
ENST00000431692.5:c.*646C>T	ENSP00000413905.1:n.*646C>T
ENST00000461176.1:n.317C>T
ENST00000462090.5:n.1007C>T
ENST00000462107.1:c.1971C>T	ENSP00000420525.1:p.Leu657=
ENST00000465294.5:n.1891C>T
ENST00000476304.5:n.1592C>T
ENST00000490084.5:c.1324C>T
NM_001206855.1:c.1458C>T	NP_001193784.1:p.Leu486=
NM_003227.3:c.1971C>T	NP_003218.2:p.Leu657=
XM_005250553.3:c.1971C>T	XP_005250610.1:p.Leu657=
XM_005250554.3:c.1971C>T	XP_005250611.1:p.Leu657=
XR_927814.1:n.434-3868G>A
NM_001206855.2:c.1458C>T	NP_001193784.1:p.Leu486=
XM_005250553.4:c.1971C>T	XP_005250610.1:p.Leu657=
XM_017012573.1:c.1971C>T	XP_016868062.1:p.Leu657=
NM_003227.4:c.1971C>T MANE Select	NP_003218.2:p.Leu657=
NM_001206855.3:c.1458C>T	NP_001193784.1:p.Leu486=