Canonical Allele Identifier: CA2739279330
Gene: TFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2838210
ClinVar RCV Id: RCV003752112
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633100del , CM000669.2:g.100633100del GRCh38
NC_000007.13:g.100230723del , CM000669.1:g.100230723del GRCh37
NC_000007.12:g.100068659del NCBI36
NG_007989.1:g.13451del

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.750del MANE Select ENSP00000223051.3:p.Tyr250Ter
ENST00000223051.7:c.750del ENSP00000223051.3:p.Tyr250Ter
ENST00000431692.5:c.750del ENSP00000413905.1:p.Tyr250Ter
ENST00000462107.1:c.750del ENSP00000420525.1:p.Tyr250Ter
ENST00000465294.5:n.755del
ENST00000473374.5:n.200del
ENST00000473571.1:n.204del
ENST00000475011.1:n.279del
ENST00000476304.5:n.371del
ENST00000490084.5:c.5del
NM_001206855.1:c.237del NP_001193784.1:p.Tyr79Ter
NM_003227.3:c.750del NP_003218.2:p.Tyr250Ter
XM_005250553.3:c.750del XP_005250610.1:p.Tyr250Ter
XM_005250554.3:c.750del XP_005250611.1:p.Tyr250Ter
NM_001206855.2:c.237del NP_001193784.1:p.Tyr79Ter
XM_005250553.4:c.750del XP_005250610.1:p.Tyr250Ter
XM_017012573.1:c.750del XP_016868062.1:p.Tyr250Ter
NM_003227.4:c.750del MANE Select NP_003218.2:p.Tyr250Ter
NM_001206855.3:c.237del NP_001193784.1:p.Tyr79Ter
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