Canonical Allele Identifier: CA1105038333

Gene: TFR2

Linked Data

• dbSNP Id: rs1803308501
• gnomAD v3: 7-100627748-CAG-C
• gnomAD v4: 7-100627748-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627749_100627750del , CM000669.2:g.100627749_100627750del	GRCh38
NC_000007.13:g.100225372_100225373del , CM000669.1:g.100225372_100225373del	GRCh37
NC_000007.12:g.100063308_100063309del	NCBI36
NG_007989.1:g.18801_18802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1676_1677del MANE Select	ENSP00000223051.3:p.Ala559GlyfsTer?
ENST00000223051.7:c.1676_1677del	ENSP00000223051.3:p.Ala559GlyfsTer?
ENST00000431692.5:c.*351_*352del	ENSP00000413905.1:n.*351_*352del
ENST00000462090.5:n.627_628del
ENST00000462107.1:c.1676_1677del	ENSP00000420525.1:p.Ala559GlyfsTer?
ENST00000465294.5:n.1511_1512del
ENST00000473374.5:n.749_750del
ENST00000473963.1:n.705_706del
ENST00000476304.5:n.1297_1298del
ENST00000490084.5:c.1029_1030del
NM_001206855.1:c.1163_1164del	NP_001193784.1:p.Ala388GlyfsTer?
NM_003227.3:c.1676_1677del	NP_003218.2:p.Ala559GlyfsTer?
XM_005250553.3:c.1676_1677del	XP_005250610.1:p.Ala559GlyfsTer?
XM_005250554.3:c.1676_1677del	XP_005250611.1:p.Ala559GlyfsTer?
XR_927814.1:n.434-3407_434-3406del
NM_001206855.2:c.1163_1164del	NP_001193784.1:p.Ala388GlyfsTer?
XM_005250553.4:c.1676_1677del	XP_005250610.1:p.Ala559GlyfsTer?
XM_017012573.1:c.1676_1677del	XP_016868062.1:p.Ala559GlyfsTer?
NM_003227.4:c.1676_1677del MANE Select	NP_003218.2:p.Ala559GlyfsTer?
NM_001206855.3:c.1163_1164del	NP_001193784.1:p.Ala388GlyfsTer?