Canonical Allele Identifier: CA2149670868
Gene: DIO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.80203152G= , CM000676.2:g.80203152G= GRCh38
NC_000014.8:g.80669495G= , CM000676.1:g.80669495G= GRCh37
NC_000014.7:g.79739248G= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438257.9:c.359C= MANE Select ENSP00000405854.5:p.Pro120=
ENST00000555750.2:c.*197C= ENSP00000450980.2:n.*197C=
ENST00000422005.7:c.*160C= ENSP00000411438.4:n.*160C=
ENST00000438257.8:c.359C= ENSP00000405854.4:p.Pro120=
ENST00000555750.1:c.467C= ENSP00000450980.1:p.Pro156=
ENST00000555844.1:c.443C=
ENST00000556811.5:c.335C=
ENST00000557010.5:c.359C= ENSP00000451419.1:p.Pro120=
ENST00000557125.1:c.49-66C= ENSP00000450547.1:n.49-66C=
NM_000793.5:c.359C= NP_000784.2:p.Pro120=
NM_001007023.3:c.467C= NP_001007024.1:p.Pro156=
NM_001242502.1:c.*160C= NP_001229431.1:n.*160C=
NM_001242503.1:c.*160C= NP_001229432.1:n.*160C=
NM_013989.4:c.359C= NP_054644.1:p.Pro120=
NM_000793.6:c.359C= NP_000784.3:p.Pro120=
NM_001324462.2:c.359C= NP_001311391.2:p.Pro120=
NM_001366496.1:c.359C= NP_001353425.1:p.Pro120=
NM_013989.5:c.359C= MANE Select NP_054644.1:p.Pro120=
NR_158990.1:n.499C=
NR_158991.1:n.633C=