Canonical Allele Identifier: CA390764852

Gene: DIO2

Linked Data

• dbSNP Id: rs1466984455
• gnomAD v2: 14-80669341-C-T
• gnomAD v4: 14-80202998-C-T
• COSMIC: COSM3498348 ; COSM3498349
• MyVariant Identifiers: chr14:g.80669341C>T (hg19) ; chr14:g.80202998C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80202998C>T , CM000676.2:g.80202998C>T	GRCh38
NC_000014.8:g.80669341C>T , CM000676.1:g.80669341C>T	GRCh37
NC_000014.7:g.79739094C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.513G>A MANE Select	ENSP00000405854.5:p.Ala171=
ENST00000555750.2:c.*351G>A	ENSP00000450980.2:n.*351G>A
ENST00000422005.7:c.*314G>A	ENSP00000411438.4:n.*314G>A
ENST00000438257.8:c.513G>A	ENSP00000405854.4:p.Ala171=
ENST00000555750.1:c.621G>A	ENSP00000450980.1:p.Ala207=
ENST00000555844.1:c.597G>A
ENST00000556811.5:c.489G>A
ENST00000557010.5:c.513G>A	ENSP00000451419.1:p.Ala171=
ENST00000557125.1:c.137G>A	ENSP00000450547.1:p.Arg46Gln
NM_000793.5:c.513G>A	NP_000784.2:p.Ala171=
NM_001007023.3:c.621G>A	NP_001007024.1:p.Ala207=
NM_001242502.1:c.*314G>A	NP_001229431.1:n.*314G>A
NM_001242503.1:c.*314G>A	NP_001229432.1:n.*314G>A
NM_013989.4:c.513G>A	NP_054644.1:p.Ala171=
NM_000793.6:c.513G>A	NP_000784.3:p.Ala171=
NM_001324462.2:c.513G>A	NP_001311391.2:p.Ala171=
NM_001366496.1:c.513G>A	NP_001353425.1:p.Ala171=
NM_013989.5:c.513G>A MANE Select	NP_054644.1:p.Ala171=
NR_158990.1:n.653G>A
NR_158991.1:n.787G>A