Canonical Allele Identifier: CA2684106504

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626878-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626881del , CM000669.2:g.100626881del	GRCh38
NC_000007.13:g.100224504del , CM000669.1:g.100224504del	GRCh37
NC_000007.12:g.100062440del	NCBI36
NG_007989.1:g.19672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2020del MANE Select	ENSP00000223051.3:p.Val674CysfsTer29
ENST00000223051.7:c.2020del	ENSP00000223051.3:p.Val674CysfsTer29
ENST00000431692.5:c.*695del	ENSP00000413905.1:n.*695del
ENST00000461176.1:n.366del
ENST00000462090.5:n.1056del
ENST00000462107.1:c.2020del	ENSP00000420525.1:p.Val674CysfsTer29
ENST00000465294.5:n.1940del
ENST00000476304.5:n.1641del
ENST00000490084.5:c.1373del
NM_001206855.1:c.1507del	NP_001193784.1:p.Val503CysfsTer29
NM_003227.3:c.2020del	NP_003218.2:p.Val674CysfsTer29
XM_005250553.3:c.2020del	XP_005250610.1:p.Val674CysfsTer29
XM_005250554.3:c.2020del	XP_005250611.1:p.Val674CysfsTer29
XR_927814.1:n.434-4275del
NM_001206855.2:c.1507del	NP_001193784.1:p.Val503CysfsTer29
XM_005250553.4:c.2020del	XP_005250610.1:p.Val674CysfsTer29
XM_017012573.1:c.2020del	XP_016868062.1:p.Val674CysfsTer29
NM_003227.4:c.2020del MANE Select	NP_003218.2:p.Val674CysfsTer29
NM_001206855.3:c.1507del	NP_001193784.1:p.Val503CysfsTer29