Canonical Allele Identifier: CA2578963366

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627752dup , CM000669.2:g.100627752dup	GRCh38
NC_000007.13:g.100225375dup , CM000669.1:g.100225375dup	GRCh37
NC_000007.12:g.100063311dup	NCBI36
NG_007989.1:g.18799dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1674dup MANE Select	ENSP00000223051.3:p.Ala559CysfsTer2
ENST00000223051.7:c.1674dup	ENSP00000223051.3:p.Ala559CysfsTer2
ENST00000431692.5:c.*349dup	ENSP00000413905.1:n.*349dup
ENST00000462090.5:n.625dup
ENST00000462107.1:c.1674dup	ENSP00000420525.1:p.Ala559CysfsTer2
ENST00000465294.5:n.1509dup
ENST00000473374.5:n.747dup
ENST00000473963.1:n.703dup
ENST00000476304.5:n.1295dup
ENST00000490084.5:c.1027dup
NM_001206855.1:c.1161dup	NP_001193784.1:p.Ala388CysfsTer2
NM_003227.3:c.1674dup	NP_003218.2:p.Ala559CysfsTer2
XM_005250553.3:c.1674dup	XP_005250610.1:p.Ala559CysfsTer2
XM_005250554.3:c.1674dup	XP_005250611.1:p.Ala559CysfsTer2
XR_927814.1:n.434-3404dup
NM_001206855.2:c.1161dup	NP_001193784.1:p.Ala388CysfsTer2
XM_005250553.4:c.1674dup	XP_005250610.1:p.Ala559CysfsTer2
XM_017012573.1:c.1674dup	XP_016868062.1:p.Ala559CysfsTer2
NM_003227.4:c.1674dup MANE Select	NP_003218.2:p.Ala559CysfsTer2
NM_001206855.3:c.1161dup	NP_001193784.1:p.Ala388CysfsTer2