Canonical Allele Identifier: CA2684106389

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626665-GGAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626671_100626674del , CM000669.2:g.100626671_100626674del	GRCh38
NC_000007.13:g.100224294_100224297del , CM000669.1:g.100224294_100224297del	GRCh37
NC_000007.12:g.100062230_100062233del	NCBI36
NG_007989.1:g.19882_19885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2136+94_2136+97del MANE Select	ENSP00000223051.3:n.2136+94_2136+97del
ENST00000223051.7:c.2136+94_2136+97del	ENSP00000223051.3:n.2136+94_2136+97del
ENST00000431692.5:c.*811+94_*811+97del	ENSP00000413905.1:n.*811+94_*811+97del
ENST00000461176.1:n.576_579del
ENST00000462090.5:n.1172+94_1172+97del
ENST00000462107.1:c.2136+94_2136+97del	ENSP00000420525.1:n.2136+94_2136+97del
ENST00000465294.5:n.2056+94_2056+97del
ENST00000476304.5:n.1757+94_1757+97del
ENST00000490084.5:c.1489+94_1489+97del
NM_001206855.1:c.1623+94_1623+97del	NP_001193784.1:n.1623+94_1623+97del
NM_003227.3:c.2136+94_2136+97del	NP_003218.2:n.2136+94_2136+97del
XM_005250553.3:c.2136+94_2136+97del	XP_005250610.1:n.2136+94_2136+97del
XM_005250554.3:c.2137-46_2137-43del	XP_005250611.1:n.2137-46_2137-43del
XR_927814.1:n.433+4117_433+4120del
NM_001206855.2:c.1623+94_1623+97del	NP_001193784.1:n.1623+94_1623+97del
XM_005250553.4:c.2136+94_2136+97del	XP_005250610.1:n.2136+94_2136+97del
XM_017012573.1:c.2136+94_2136+97del	XP_016868062.1:n.2136+94_2136+97del
NM_003227.4:c.2136+94_2136+97del MANE Select	NP_003218.2:n.2136+94_2136+97del
NM_001206855.3:c.1623+94_1623+97del	NP_001193784.1:n.1623+94_1623+97del