Canonical Allele Identifier: CA456750242

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100230738C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633115C>G , CM000669.2:g.100633115C>G	GRCh38
NC_000007.13:g.100230738C>G , CM000669.1:g.100230738C>G	GRCh37
NC_000007.12:g.100068674C>G	NCBI36
NG_007989.1:g.13436G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.735G>C MANE Select	ENSP00000223051.3:p.Leu245=
ENST00000223051.7:c.735G>C	ENSP00000223051.3:p.Leu245=
ENST00000431692.5:c.735G>C	ENSP00000413905.1:p.Leu245=
ENST00000462107.1:c.735G>C	ENSP00000420525.1:p.Leu245=
ENST00000465294.5:n.740G>C
ENST00000473374.5:n.185G>C
ENST00000473571.1:n.189G>C
ENST00000475011.1:n.264G>C
ENST00000476304.5:n.356G>C
NM_001206855.1:c.222G>C	NP_001193784.1:p.Leu74=
NM_003227.3:c.735G>C	NP_003218.2:p.Leu245=
XM_005250553.3:c.735G>C	XP_005250610.1:p.Leu245=
XM_005250554.3:c.735G>C	XP_005250611.1:p.Leu245=
NM_001206855.2:c.222G>C	NP_001193784.1:p.Leu74=
XM_005250553.4:c.735G>C	XP_005250610.1:p.Leu245=
XM_017012573.1:c.735G>C	XP_016868062.1:p.Leu245=
NM_003227.4:c.735G>C MANE Select	NP_003218.2:p.Leu245=
NM_001206855.3:c.222G>C	NP_001193784.1:p.Leu74=