Canonical Allele Identifier: CA576714333

Gene: TFR2

Linked Data

• dbSNP Id: rs1266669635
• gnomAD v2: 7-100230724-TA-T
• MyVariant Identifiers: chr7:g.100230725del (hg19) ; chr7:g.100633102del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633102del , CM000669.2:g.100633102del	GRCh38
NC_000007.13:g.100230725del , CM000669.1:g.100230725del	GRCh37
NC_000007.12:g.100068661del	NCBI36
NG_007989.1:g.13449del

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.748del MANE Select	ENSP00000223051.3:p.Tyr250ThrfsTer28
ENST00000223051.7:c.748del	ENSP00000223051.3:p.Tyr250ThrfsTer28
ENST00000431692.5:c.748del	ENSP00000413905.1:p.Tyr250ThrfsTer28
ENST00000462107.1:c.748del	ENSP00000420525.1:p.Tyr250ThrfsTer28
ENST00000465294.5:n.753del
ENST00000473374.5:n.198del
ENST00000473571.1:n.202del
ENST00000475011.1:n.277del
ENST00000476304.5:n.369del
ENST00000490084.5:c.3del
NM_001206855.1:c.235del	NP_001193784.1:p.Tyr79ThrfsTer28
NM_003227.3:c.748del	NP_003218.2:p.Tyr250ThrfsTer28
XM_005250553.3:c.748del	XP_005250610.1:p.Tyr250ThrfsTer28
XM_005250554.3:c.748del	XP_005250611.1:p.Tyr250ThrfsTer28
NM_001206855.2:c.235del	NP_001193784.1:p.Tyr79ThrfsTer28
XM_005250553.4:c.748del	XP_005250610.1:p.Tyr250ThrfsTer28
XM_017012573.1:c.748del	XP_016868062.1:p.Tyr250ThrfsTer28
NM_003227.4:c.748del MANE Select	NP_003218.2:p.Tyr250ThrfsTer28
NM_001206855.3:c.235del	NP_001193784.1:p.Tyr79ThrfsTer28