Canonical Allele Identifier: CA2777155186

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627725_100627726insACC , CM000669.2:g.100627725_100627726insACC	GRCh38
NC_000007.13:g.100225348_100225349insACC , CM000669.1:g.100225348_100225349insACC	GRCh37
NC_000007.12:g.100063284_100063285insACC	NCBI36
NG_007989.1:g.18826_18827insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1682+19_1682+20insGTG MANE Select	ENSP00000223051.3:n.1682+19_1682+20insGTG
ENST00000223051.7:c.1682+19_1682+20insGTG	ENSP00000223051.3:n.1682+19_1682+20insGTG
ENST00000431692.5:c.*357+19_*357+20insGTG	ENSP00000413905.1:n.*357+19_*357+20insGTG
ENST00000462090.5:n.633+19_633+20insGTG
ENST00000462107.1:c.1682+19_1682+20insGTG	ENSP00000420525.1:n.1682+19_1682+20insGTG
ENST00000465294.5:n.1517+19_1517+20insGTG
ENST00000473374.5:n.755+19_755+20insGTG
ENST00000473963.1:n.711+19_711+20insGTG
ENST00000476304.5:n.1303+19_1303+20insGTG
ENST00000490084.5:c.1035+19_1035+20insGTG
NM_001206855.1:c.1169+19_1169+20insGTG	NP_001193784.1:n.1169+19_1169+20insGTG
NM_003227.3:c.1682+19_1682+20insGTG	NP_003218.2:n.1682+19_1682+20insGTG
XM_005250553.3:c.1682+19_1682+20insGTG	XP_005250610.1:n.1682+19_1682+20insGTG
XM_005250554.3:c.1682+19_1682+20insGTG	XP_005250611.1:n.1682+19_1682+20insGTG
XR_927814.1:n.434-3431_434-3430insACC
NM_001206855.2:c.1169+19_1169+20insGTG	NP_001193784.1:n.1169+19_1169+20insGTG
XM_005250553.4:c.1682+19_1682+20insGTG	XP_005250610.1:n.1682+19_1682+20insGTG
XM_017012573.1:c.1682+19_1682+20insGTG	XP_016868062.1:n.1682+19_1682+20insGTG
NM_003227.4:c.1682+19_1682+20insGTG MANE Select	NP_003218.2:n.1682+19_1682+20insGTG
NM_001206855.3:c.1169+19_1169+20insGTG	NP_001193784.1:n.1169+19_1169+20insGTG