Canonical Allele Identifier: CA1105038338

Gene: TFR2

Linked Data

• dbSNP Id: rs1803308645
• gnomAD v3: 7-100627751-C-CCA
• gnomAD v4: 7-100627751-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627751_100627752insCA , CM000669.2:g.100627751_100627752insCA	GRCh38
NC_000007.13:g.100225374_100225375insCA , CM000669.1:g.100225374_100225375insCA	GRCh37
NC_000007.12:g.100063310_100063311insCA	NCBI36
NG_007989.1:g.18799_18800insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1674_1675insTG MANE Select	ENSP00000223051.3:p.Ala559TrpfsTer4
ENST00000223051.7:c.1674_1675insTG	ENSP00000223051.3:p.Ala559TrpfsTer4
ENST00000431692.5:c.*349_*350insTG	ENSP00000413905.1:n.*349_*350insTG
ENST00000462090.5:n.625_626insTG
ENST00000462107.1:c.1674_1675insTG	ENSP00000420525.1:p.Ala559TrpfsTer4
ENST00000465294.5:n.1509_1510insTG
ENST00000473374.5:n.747_748insTG
ENST00000473963.1:n.703_704insTG
ENST00000476304.5:n.1295_1296insTG
ENST00000490084.5:c.1027_1028insTG
NM_001206855.1:c.1161_1162insTG	NP_001193784.1:p.Ala388TrpfsTer4
NM_003227.3:c.1674_1675insTG	NP_003218.2:p.Ala559TrpfsTer4
XM_005250553.3:c.1674_1675insTG	XP_005250610.1:p.Ala559TrpfsTer4
XM_005250554.3:c.1674_1675insTG	XP_005250611.1:p.Ala559TrpfsTer4
XR_927814.1:n.434-3405_434-3404insCA
NM_001206855.2:c.1161_1162insTG	NP_001193784.1:p.Ala388TrpfsTer4
XM_005250553.4:c.1674_1675insTG	XP_005250610.1:p.Ala559TrpfsTer4
XM_017012573.1:c.1674_1675insTG	XP_016868062.1:p.Ala559TrpfsTer4
NM_003227.4:c.1674_1675insTG MANE Select	NP_003218.2:p.Ala559TrpfsTer4
NM_001206855.3:c.1161_1162insTG	NP_001193784.1:p.Ala388TrpfsTer4