Canonical Allele Identifier: CA2715561035

Gene: TFR2

Linked Data

• dbSNP Id: rs2131319924

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100632938_100632939del , CM000669.2:g.100632938_100632939del	GRCh38
NC_000007.13:g.100230561_100230562del , CM000669.1:g.100230561_100230562del	GRCh37
NC_000007.12:g.100068497_100068498del	NCBI36
NG_007989.1:g.13614_13615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.849+64_849+65del MANE Select	ENSP00000223051.3:n.849+64_849+65del
ENST00000223051.7:c.849+64_849+65del	ENSP00000223051.3:n.849+64_849+65del
ENST00000431692.5:c.849+64_849+65del	ENSP00000413905.1:n.849+64_849+65del
ENST00000462090.5:n.90+64_90+65del
ENST00000462107.1:c.849+64_849+65del	ENSP00000420525.1:n.849+64_849+65del
ENST00000465294.5:n.854+64_854+65del
ENST00000473374.5:n.299+64_299+65del
ENST00000473571.1:n.303+64_303+65del
ENST00000475011.1:n.442_443del
ENST00000476304.5:n.470+64_470+65del
ENST00000490084.5:c.104+64_104+65del
NM_001206855.1:c.336+64_336+65del	NP_001193784.1:n.336+64_336+65del
NM_003227.3:c.849+64_849+65del	NP_003218.2:n.849+64_849+65del
XM_005250553.3:c.849+64_849+65del	XP_005250610.1:n.849+64_849+65del
XM_005250554.3:c.849+64_849+65del	XP_005250611.1:n.849+64_849+65del
XR_927814.1:n.519_520del
NM_001206855.2:c.336+64_336+65del	NP_001193784.1:n.336+64_336+65del
XM_005250553.4:c.849+64_849+65del	XP_005250610.1:n.849+64_849+65del
XM_017012573.1:c.849+64_849+65del	XP_016868062.1:n.849+64_849+65del
NM_003227.4:c.849+64_849+65del MANE Select	NP_003218.2:n.849+64_849+65del
NM_001206855.3:c.336+64_336+65del	NP_001193784.1:n.336+64_336+65del