Canonical Allele Identifier: CA2625915513

Gene: DIO2

Linked Data

• gnomAD v4: 14-80203219-T-TGTTGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203220_80203225dup , CM000676.2:g.80203220_80203225dup	GRCh38
NC_000014.8:g.80669563_80669568dup , CM000676.1:g.80669563_80669568dup	GRCh37
NC_000014.7:g.79739316_79739321dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.286_291dup MANE Select	ENSP00000405854.5:p.Asn97_Ser98insAspAsn
ENST00000555750.2:c.*124_*129dup	ENSP00000450980.2:n.*124_*129dup
ENST00000422005.7:c.*87_*92dup	ENSP00000411438.4:n.*87_*92dup
ENST00000438257.8:c.286_291dup	ENSP00000405854.4:p.Asn97_Ser98insAspAsn
ENST00000555750.1:c.394_399dup	ENSP00000450980.1:p.Asn133_Ser134insAspAsn
ENST00000555844.1:c.370_375dup
ENST00000556811.5:c.262_267dup
ENST00000557010.5:c.286_291dup	ENSP00000451419.1:p.Asn97_Ser98insAspAsn
ENST00000557125.1:c.49-139_49-134dup	ENSP00000450547.1:n.49-139_49-134dup
NM_000793.5:c.286_291dup	NP_000784.2:p.Asn97_Ser98insAspAsn
NM_001007023.3:c.394_399dup	NP_001007024.1:p.Asn133_Ser134insAspAsn
NM_001242502.1:c.*87_*92dup	NP_001229431.1:n.*87_*92dup
NM_001242503.1:c.*87_*92dup	NP_001229432.1:n.*87_*92dup
NM_013989.4:c.286_291dup	NP_054644.1:p.Asn97_Ser98insAspAsn
NM_000793.6:c.286_291dup	NP_000784.3:p.Asn97_Ser98insAspAsn
NM_001324462.2:c.286_291dup	NP_001311391.2:p.Asn97_Ser98insAspAsn
NM_001366496.1:c.286_291dup	NP_001353425.1:p.Asn97_Ser98insAspAsn
NM_013989.5:c.286_291dup MANE Select	NP_054644.1:p.Asn97_Ser98insAspAsn
NR_158990.1:n.426_431dup
NR_158991.1:n.560_565dup