Canonical Allele Identifier: CA2777155187

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627728_100627729del , CM000669.2:g.100627728_100627729del	GRCh38
NC_000007.13:g.100225351_100225352del , CM000669.1:g.100225351_100225352del	GRCh37
NC_000007.12:g.100063287_100063288del	NCBI36
NG_007989.1:g.18822_18823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1682+15_1682+16del MANE Select	ENSP00000223051.3:n.1682+15_1682+16del
ENST00000223051.7:c.1682+15_1682+16del	ENSP00000223051.3:n.1682+15_1682+16del
ENST00000431692.5:c.*357+15_*357+16del	ENSP00000413905.1:n.*357+15_*357+16del
ENST00000462090.5:n.633+15_633+16del
ENST00000462107.1:c.1682+15_1682+16del	ENSP00000420525.1:n.1682+15_1682+16del
ENST00000465294.5:n.1517+15_1517+16del
ENST00000473374.5:n.755+15_755+16del
ENST00000473963.1:n.711+15_711+16del
ENST00000476304.5:n.1303+15_1303+16del
ENST00000490084.5:c.1035+15_1035+16del
NM_001206855.1:c.1169+15_1169+16del	NP_001193784.1:n.1169+15_1169+16del
NM_003227.3:c.1682+15_1682+16del	NP_003218.2:n.1682+15_1682+16del
XM_005250553.3:c.1682+15_1682+16del	XP_005250610.1:n.1682+15_1682+16del
XM_005250554.3:c.1682+15_1682+16del	XP_005250611.1:n.1682+15_1682+16del
XR_927814.1:n.434-3428_434-3427del
NM_001206855.2:c.1169+15_1169+16del	NP_001193784.1:n.1169+15_1169+16del
XM_005250553.4:c.1682+15_1682+16del	XP_005250610.1:n.1682+15_1682+16del
XM_017012573.1:c.1682+15_1682+16del	XP_016868062.1:n.1682+15_1682+16del
NM_003227.4:c.1682+15_1682+16del MANE Select	NP_003218.2:n.1682+15_1682+16del
NM_001206855.3:c.1169+15_1169+16del	NP_001193784.1:n.1169+15_1169+16del