Canonical Allele Identifier: CA7292686

Gene: DIO2

Linked Data

• dbSNP Id: rs1555354008
• ExAC: 14:80669652 A / AG
• gnomAD v2: 14-80669652-A-AG
• gnomAD v3: 14-80203309-A-AG
• gnomAD v4: 14-80203309-A-AG
• MyVariant Identifiers: chr14:g.80669652_80669653insG (hg19) ; chr14:g.80669653_80669655delinsGAAG (hg19) ; chr14:g.80203309_80203310insG (hg38) ; chr14:g.80203310_80203312delinsGAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203309_80203310insG , CM000676.2:g.80203309_80203310insG	GRCh38
NC_000014.8:g.80669652_80669653insG , CM000676.1:g.80669652_80669653insG	GRCh37
NC_000014.7:g.79739405_79739406insG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.223-22_223-21insC MANE Select	ENSP00000405854.5:n.223-22_223-21insC
ENST00000555750.2:c.*61-22_*61-21insC	ENSP00000450980.2:n.*61-22_*61-21insC
ENST00000422005.7:c.*24-22_*24-21insC	ENSP00000411438.4:n.*24-22_*24-21insC
ENST00000438257.8:c.223-22_223-21insC	ENSP00000405854.4:n.223-22_223-21insC
ENST00000555750.1:c.331-22_331-21insC	ENSP00000450980.1:n.331-22_331-21insC
ENST00000555844.1:c.307-22_307-21insC
ENST00000556811.5:c.199-22_199-21insC
ENST00000557010.5:c.223-22_223-21insC	ENSP00000451419.1:n.223-22_223-21insC
ENST00000557125.1:c.49-224_49-223insC	ENSP00000450547.1:n.49-224_49-223insC
NM_000793.5:c.223-22_223-21insC	NP_000784.2:n.223-22_223-21insC
NM_001007023.3:c.331-22_331-21insC	NP_001007024.1:n.331-22_331-21insC
NM_001242502.1:c.*24-22_*24-21insC	NP_001229431.1:n.*24-22_*24-21insC
NM_001242503.1:c.*24-22_*24-21insC	NP_001229432.1:n.*24-22_*24-21insC
NM_013989.4:c.223-22_223-21insC	NP_054644.1:n.223-22_223-21insC
NM_000793.6:c.223-22_223-21insC	NP_000784.3:n.223-22_223-21insC
NM_001324462.2:c.223-22_223-21insC	NP_001311391.2:n.223-22_223-21insC
NM_001366496.1:c.223-22_223-21insC	NP_001353425.1:n.223-22_223-21insC
NM_013989.5:c.223-22_223-21insC MANE Select	NP_054644.1:n.223-22_223-21insC
NR_158990.1:n.363-22_363-21insC
NR_158991.1:n.497-22_497-21insC