Canonical Allele Identifier: CA368526299

Gene: TFR2

Linked Data

• dbSNP Id: rs1756323139
• MyVariant Identifiers: chr7:g.100225373G>C (hg19) ; chr7:g.100627750G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627750G>C , CM000669.2:g.100627750G>C	GRCh38
NC_000007.13:g.100225373G>C , CM000669.1:g.100225373G>C	GRCh37
NC_000007.12:g.100063309G>C	NCBI36
NG_007989.1:g.18801C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1676C>G MANE Select	ENSP00000223051.3:p.Ala559Gly
ENST00000223051.7:c.1676C>G	ENSP00000223051.3:p.Ala559Gly
ENST00000431692.5:c.*351C>G	ENSP00000413905.1:n.*351C>G
ENST00000462090.5:n.627C>G
ENST00000462107.1:c.1676C>G	ENSP00000420525.1:p.Ala559Gly
ENST00000465294.5:n.1511C>G
ENST00000473374.5:n.749C>G
ENST00000473963.1:n.705C>G
ENST00000476304.5:n.1297C>G
ENST00000490084.5:c.1029C>G
NM_001206855.1:c.1163C>G	NP_001193784.1:p.Ala388Gly
NM_003227.3:c.1676C>G	NP_003218.2:p.Ala559Gly
XM_005250553.3:c.1676C>G	XP_005250610.1:p.Ala559Gly
XM_005250554.3:c.1676C>G	XP_005250611.1:p.Ala559Gly
XR_927814.1:n.434-3406G>C
NM_001206855.2:c.1163C>G	NP_001193784.1:p.Ala388Gly
XM_005250553.4:c.1676C>G	XP_005250610.1:p.Ala559Gly
XM_017012573.1:c.1676C>G	XP_016868062.1:p.Ala559Gly
NM_003227.4:c.1676C>G MANE Select	NP_003218.2:p.Ala559Gly
NM_001206855.3:c.1163C>G	NP_001193784.1:p.Ala388Gly