Canonical Allele Identifier: CA576450465

Gene: TFR2

Linked Data

• gnomAD v2: 7-100224483-TC-T
• gnomAD v4: 7-100626860-TC-T
• MyVariant Identifiers: chr7:g.100224484del (hg19) ; chr7:g.100626861del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626866del , CM000669.2:g.100626866del	GRCh38
NC_000007.13:g.100224489del , CM000669.1:g.100224489del	GRCh37
NC_000007.12:g.100062425del	NCBI36
NG_007989.1:g.19690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2038del MANE Select	ENSP00000223051.3:p.Asp680ThrfsTer23
ENST00000223051.7:c.2038del	ENSP00000223051.3:p.Asp680ThrfsTer23
ENST00000431692.5:c.*713del	ENSP00000413905.1:n.*713del
ENST00000461176.1:n.384del
ENST00000462090.5:n.1074del
ENST00000462107.1:c.2038del	ENSP00000420525.1:p.Asp680ThrfsTer23
ENST00000465294.5:n.1958del
ENST00000476304.5:n.1659del
ENST00000490084.5:c.1391del
NM_001206855.1:c.1525del	NP_001193784.1:p.Asp509ThrfsTer23
NM_003227.3:c.2038del	NP_003218.2:p.Asp680ThrfsTer23
XM_005250553.3:c.2038del	XP_005250610.1:p.Asp680ThrfsTer23
XM_005250554.3:c.2038del	XP_005250611.1:p.Asp680ThrfsTer23
XR_927814.1:n.434-4290del
NM_001206855.2:c.1525del	NP_001193784.1:p.Asp509ThrfsTer23
XM_005250553.4:c.2038del	XP_005250610.1:p.Asp680ThrfsTer23
XM_017012573.1:c.2038del	XP_016868062.1:p.Asp680ThrfsTer23
NM_003227.4:c.2038del MANE Select	NP_003218.2:p.Asp680ThrfsTer23
NM_001206855.3:c.1525del	NP_001193784.1:p.Asp509ThrfsTer23