Canonical Allele Identifier: CA7292688

Gene: DIO2

Linked Data

• dbSNP Id: rs374218011
• ExAC: 14:80669654 A / AG
• gnomAD v2: 14-80669654-A-AG
• gnomAD v3: 14-80203311-A-AG
• gnomAD v4: 14-80203311-A-AG
• MyVariant Identifiers: chr14:g.80669655_80669656insG (hg19) ; chr14:g.80669654_80669655insG (hg19) ; chr14:g.80203311_80203312insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203312dup , CM000676.2:g.80203312dup	GRCh38
NC_000014.8:g.80669655dup , CM000676.1:g.80669655dup	GRCh37
NC_000014.7:g.79739408dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.223-24dup MANE Select	ENSP00000405854.5:n.223-24dup
ENST00000555750.2:c.*61-24dup	ENSP00000450980.2:n.*61-24dup
ENST00000422005.7:c.*24-24dup	ENSP00000411438.4:n.*24-24dup
ENST00000438257.8:c.223-24dup	ENSP00000405854.4:n.223-24dup
ENST00000555750.1:c.331-24dup	ENSP00000450980.1:n.331-24dup
ENST00000555844.1:c.307-24dup
ENST00000556811.5:c.199-24dup
ENST00000557010.5:c.223-24dup	ENSP00000451419.1:n.223-24dup
ENST00000557125.1:c.49-226dup	ENSP00000450547.1:n.49-226dup
NM_000793.5:c.223-24dup	NP_000784.2:n.223-24dup
NM_001007023.3:c.331-24dup	NP_001007024.1:n.331-24dup
NM_001242502.1:c.*24-24dup	NP_001229431.1:n.*24-24dup
NM_001242503.1:c.*24-24dup	NP_001229432.1:n.*24-24dup
NM_013989.4:c.223-24dup	NP_054644.1:n.223-24dup
NM_000793.6:c.223-24dup	NP_000784.3:n.223-24dup
NM_001324462.2:c.223-24dup	NP_001311391.2:n.223-24dup
NM_001366496.1:c.223-24dup	NP_001353425.1:n.223-24dup
NM_013989.5:c.223-24dup MANE Select	NP_054644.1:n.223-24dup
NR_158990.1:n.363-24dup
NR_158991.1:n.497-24dup