Canonical Allele Identifier: CA4386750

Gene: TFR2

Linked Data

• dbSNP Id: rs770478928
• ExAC: 7:100230865 A / G
• gnomAD v2: 7-100230865-A-G
• gnomAD v3: 7-100633242-A-G
• gnomAD v4: 7-100633242-A-G
• MyVariant Identifiers: chr7:g.100230865A>G (hg19) ; chr7:g.100633242A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633242A>G , CM000669.2:g.100633242A>G	GRCh38
NC_000007.13:g.100230865A>G , CM000669.1:g.100230865A>G	GRCh37
NC_000007.12:g.100068801A>G	NCBI36
NG_007989.1:g.13309T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.713T>C MANE Select	ENSP00000223051.3:p.Ile238Thr
ENST00000223051.7:c.713T>C	ENSP00000223051.3:p.Ile238Thr
ENST00000431692.5:c.713T>C	ENSP00000413905.1:p.Ile238Thr
ENST00000462107.1:c.713T>C	ENSP00000420525.1:p.Ile238Thr
ENST00000465294.5:n.718T>C
ENST00000473374.5:n.163T>C
ENST00000473571.1:n.167T>C
ENST00000475011.1:n.242T>C
ENST00000476304.5:n.334T>C
NM_001206855.1:c.200T>C	NP_001193784.1:p.Ile67Thr
NM_003227.3:c.713T>C	NP_003218.2:p.Ile238Thr
XM_005250553.3:c.713T>C	XP_005250610.1:p.Ile238Thr
XM_005250554.3:c.713T>C	XP_005250611.1:p.Ile238Thr
NM_001206855.2:c.200T>C	NP_001193784.1:p.Ile67Thr
XM_005250553.4:c.713T>C	XP_005250610.1:p.Ile238Thr
XM_017012573.1:c.713T>C	XP_016868062.1:p.Ile238Thr
NM_003227.4:c.713T>C MANE Select	NP_003218.2:p.Ile238Thr
NM_001206855.3:c.200T>C	NP_001193784.1:p.Ile67Thr