Canonical Allele Identifier: CA2497214297

Gene: TFR2

Linked Data

• dbSNP Id: rs759907892
• gnomAD v4: 7-100626732-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626737del , CM000669.2:g.100626737del	GRCh38
NC_000007.13:g.100224360del , CM000669.1:g.100224360del	GRCh37
NC_000007.12:g.100062296del	NCBI36
NG_007989.1:g.19818del

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2136+30del MANE Select	ENSP00000223051.3:n.2136+30del
ENST00000223051.7:c.2136+30del	ENSP00000223051.3:n.2136+30del
ENST00000431692.5:c.*811+30del	ENSP00000413905.1:n.*811+30del
ENST00000461176.1:n.512del
ENST00000462090.5:n.1172+30del
ENST00000462107.1:c.2136+30del	ENSP00000420525.1:n.2136+30del
ENST00000465294.5:n.2056+30del
ENST00000476304.5:n.1757+30del
ENST00000490084.5:c.1489+30del
NM_001206855.1:c.1623+30del	NP_001193784.1:n.1623+30del
NM_003227.3:c.2136+30del	NP_003218.2:n.2136+30del
XM_005250553.3:c.2136+30del	XP_005250610.1:n.2136+30del
XM_005250554.3:c.2136+30del	XP_005250611.1:n.2136+30del
XR_927814.1:n.433+4183del
NM_001206855.2:c.1623+30del	NP_001193784.1:n.1623+30del
XM_005250553.4:c.2136+30del	XP_005250610.1:n.2136+30del
XM_017012573.1:c.2136+30del	XP_016868062.1:n.2136+30del
NM_003227.4:c.2136+30del MANE Select	NP_003218.2:n.2136+30del
NM_001206855.3:c.1623+30del	NP_001193784.1:n.1623+30del