Canonical Allele Identifier: CA7292633

Gene: DIO2

Linked Data

• dbSNP Id: rs201964819
• ExAC: 14:80669404 G / C
• gnomAD v2: 14-80669404-G-C
• gnomAD v3: 14-80203061-G-C
• gnomAD v4: 14-80203061-G-C
• MyVariant Identifiers: chr14:g.80669404G>C (hg19) ; chr14:g.80203061G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203061G>C , CM000676.2:g.80203061G>C	GRCh38
NC_000014.8:g.80669404G>C , CM000676.1:g.80669404G>C	GRCh37
NC_000014.7:g.79739157G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000438257.9:c.450C>G MANE Select	ENSP00000405854.5:p.Phe150Leu
ENST00000555750.2:c.*288C>G	ENSP00000450980.2:n.*288C>G
ENST00000422005.7:c.*251C>G	ENSP00000411438.4:n.*251C>G
ENST00000438257.8:c.450C>G	ENSP00000405854.4:p.Phe150Leu
ENST00000555750.1:c.558C>G	ENSP00000450980.1:p.Phe186Leu
ENST00000555844.1:c.534C>G
ENST00000556811.5:c.426C>G
ENST00000557010.5:c.450C>G	ENSP00000451419.1:p.Phe150Leu
ENST00000557125.1:c.74C>G	ENSP00000450547.1:p.Ser25Cys
NM_000793.5:c.450C>G	NP_000784.2:p.Phe150Leu
NM_001007023.3:c.558C>G	NP_001007024.1:p.Phe186Leu
NM_001242502.1:c.*251C>G	NP_001229431.1:n.*251C>G
NM_001242503.1:c.*251C>G	NP_001229432.1:n.*251C>G
NM_013989.4:c.450C>G	NP_054644.1:p.Phe150Leu
NM_000793.6:c.450C>G	NP_000784.3:p.Phe150Leu
NM_001324462.2:c.450C>G	NP_001311391.2:p.Phe150Leu
NM_001366496.1:c.450C>G	NP_001353425.1:p.Phe150Leu
NM_013989.5:c.450C>G MANE Select	NP_054644.1:p.Phe150Leu
NR_158990.1:n.590C>G
NR_158991.1:n.724C>G