Canonical Allele Identifier: CA456894426

Gene: TFR2

Linked Data

• dbSNP Id: rs1803308429
• MyVariant Identifiers: chr7:g.100225372A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627749A>C , CM000669.2:g.100627749A>C	GRCh38
NC_000007.13:g.100225372A>C , CM000669.1:g.100225372A>C	GRCh37
NC_000007.12:g.100063308A>C	NCBI36
NG_007989.1:g.18802T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1677T>G MANE Select	ENSP00000223051.3:p.Ala559=
ENST00000223051.7:c.1677T>G	ENSP00000223051.3:p.Ala559=
ENST00000431692.5:c.*352T>G	ENSP00000413905.1:n.*352T>G
ENST00000462090.5:n.628T>G
ENST00000462107.1:c.1677T>G	ENSP00000420525.1:p.Ala559=
ENST00000465294.5:n.1512T>G
ENST00000473374.5:n.750T>G
ENST00000473963.1:n.706T>G
ENST00000476304.5:n.1298T>G
ENST00000490084.5:c.1030T>G
NM_001206855.1:c.1164T>G	NP_001193784.1:p.Ala388=
NM_003227.3:c.1677T>G	NP_003218.2:p.Ala559=
XM_005250553.3:c.1677T>G	XP_005250610.1:p.Ala559=
XM_005250554.3:c.1677T>G	XP_005250611.1:p.Ala559=
XR_927814.1:n.434-3407A>C
NM_001206855.2:c.1164T>G	NP_001193784.1:p.Ala388=
XM_005250553.4:c.1677T>G	XP_005250610.1:p.Ala559=
XM_017012573.1:c.1677T>G	XP_016868062.1:p.Ala559=
NM_003227.4:c.1677T>G MANE Select	NP_003218.2:p.Ala559=
NM_001206855.3:c.1164T>G	NP_001193784.1:p.Ala388=