Canonical Allele Identifier: CA368522084

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100218692T>A (hg19) ; chr7:g.100621069T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621069T>A , CM000669.2:g.100621069T>A	GRCh38
NC_000007.13:g.100218692T>A , CM000669.1:g.100218692T>A	GRCh37
NC_000007.12:g.100056628T>A	NCBI36
NG_007989.1:g.25482A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2194A>T MANE Select	ENSP00000223051.3:p.Ile732Phe
ENST00000223051.7:c.2194A>T	ENSP00000223051.3:p.Ile732Phe
ENST00000431692.5:c.*869A>T	ENSP00000413905.1:n.*869A>T
ENST00000462090.5:n.1230A>T
ENST00000462107.1:c.2194A>T	ENSP00000420525.1:p.Ile732Phe
ENST00000465294.5:n.2114A>T
ENST00000476304.5:n.1815A>T
ENST00000490084.5:c.1547A>T
NM_001206855.1:c.1681A>T	NP_001193784.1:p.Ile561Phe
NM_003227.3:c.2194A>T	NP_003218.2:p.Ile732Phe
XM_005250553.3:c.2194A>T	XP_005250610.1:p.Ile732Phe
NM_001206855.2:c.1681A>T	NP_001193784.1:p.Ile561Phe
XM_005250553.4:c.2194A>T	XP_005250610.1:p.Ile732Phe
XM_017012573.1:c.2194A>T	XP_016868062.1:p.Ile732Phe
NM_003227.4:c.2194A>T MANE Select	NP_003218.2:p.Ile732Phe
NM_001206855.3:c.1681A>T	NP_001193784.1:p.Ile561Phe