Canonical Allele Identifier: CA2497214239

Gene: TFR2

Linked Data

• dbSNP Id: rs1803132537

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100622305_100622306insATGACCCACCCA , CM000669.2:g.100622305_100622306insATGACCCACCCA	GRCh38
NC_000007.13:g.100219928_100219929insATGACCCACCCA , CM000669.1:g.100219928_100219929insATGACCCACCCA	GRCh37
NC_000007.12:g.100057864_100057865insATGACCCACCCA	NCBI36
NG_007989.1:g.24253_24254insTCATTGGGTGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2137-1172_2137-1171insTCATTGGGTGGG MANE Select	ENSP00000223051.3:n.2137-1172_2137-1171in...
ENST00000223051.7:c.2137-1172_2137-1171insTCATTGGGTGGG	ENSP00000223051.3:n.2137-1172_2137-1171in...
ENST00000431692.5:c.*812-1172_*812-1171insTCATTGGGTGGG	ENSP00000413905.1:n.*812-1172_*812-1171in...
ENST00000462090.5:n.1173-1172_1173-1171insTCATTGGGTGGG
ENST00000462107.1:c.2137-1172_2137-1171insTCATTGGGTGGG	ENSP00000420525.1:n.2137-1172_2137-1171in...
ENST00000465294.5:n.2057-1172_2057-1171insTCATTGGGTGGG
ENST00000476304.5:n.1758-1172_1758-1171insTCATTGGGTGGG
ENST00000490084.5:c.1490-1172_1490-1171insTCATTGGGTGGG
NM_001206855.1:c.1624-1172_1624-1171insTCATTGGGTGGG	NP_001193784.1:n.1624-1172_1624-1171insTC...
NM_003227.3:c.2137-1172_2137-1171insTCATTGGGTGGG	NP_003218.2:n.2137-1172_2137-1171insTCATT...
XM_005250553.3:c.2137-1172_2137-1171insTCATTGGGTGGG	XP_005250610.1:n.2137-1172_2137-1171insTC...
XR_927814.1:n.184_185insATGACCCACCCA
NM_001206855.2:c.1624-1172_1624-1171insTCATTGGGTGGG	NP_001193784.1:n.1624-1172_1624-1171insTC...
XM_005250553.4:c.2137-1172_2137-1171insTCATTGGGTGGG	XP_005250610.1:n.2137-1172_2137-1171insTC...
XM_017012573.1:c.2137-1172_2137-1171insTCATTGGGTGGG	XP_016868062.1:n.2137-1172_2137-1171insTC...
NM_003227.4:c.2137-1172_2137-1171insTCATTGGGTGGG MANE Select	NP_003218.2:n.2137-1172_2137-1171insTCATT...
NM_001206855.3:c.1624-1172_1624-1171insTCATTGGGTGGG	NP_001193784.1:n.1624-1172_1624-1171insTC...