Canonical Allele Identifier: CA576714282

Gene: TFR2

Linked Data

• ClinVar Variation Id: 1440812
• ClinVar RCV Id: RCV001967760 ; RCV003475193
• dbSNP Id: rs1463281712
• gnomAD v2: 7-100218657-GGC-G
• gnomAD v4: 7-100621034-GGC-G
• MyVariant Identifiers: chr7:g.100218658_100218659del (hg19) ; chr7:g.100621035_100621036del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621037_100621038del , CM000669.2:g.100621037_100621038del	GRCh38
NC_000007.13:g.100218660_100218661del , CM000669.1:g.100218660_100218661del	GRCh37
NC_000007.12:g.100056596_100056597del	NCBI36
NG_007989.1:g.25515_25516del

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2227_2228del MANE Select	ENSP00000223051.3:p.Ala743ProfsTer?
ENST00000223051.7:c.2227_2228del	ENSP00000223051.3:p.Ala743ProfsTer?
ENST00000431692.5:c.*902_*903del	ENSP00000413905.1:n.*902_*903del
ENST00000462090.5:n.1263_1264del
ENST00000462107.1:c.2227_2228del	ENSP00000420525.1:p.Ala743ProfsTer?
ENST00000465294.5:n.2147_2148del
ENST00000476304.5:n.1848_1849del
ENST00000490084.5:c.1580_1581del
NM_001206855.1:c.1714_1715del	NP_001193784.1:p.Ala572ProfsTer?
NM_003227.3:c.2227_2228del	NP_003218.2:p.Ala743ProfsTer?
XM_005250553.3:c.2227_2228del	XP_005250610.1:p.Ala743ProfsTer?
NM_001206855.2:c.1714_1715del	NP_001193784.1:p.Ala572ProfsTer?
XM_005250553.4:c.2227_2228del	XP_005250610.1:p.Ala743ProfsTer?
XM_017012573.1:c.2227_2228del	XP_016868062.1:p.Ala743ProfsTer?
NM_003227.4:c.2227_2228del MANE Select	NP_003218.2:p.Ala743ProfsTer?
NM_001206855.3:c.1714_1715del	NP_001193784.1:p.Ala572ProfsTer?