Canonical Allele Identifier: CA264292654
Gene: DIO2 HGNC NCBI
DIO2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1007196924
gnomAD v2: 14-80678301-GTTTC-G
gnomAD v3: 14-80211958-GTTTC-G
gnomAD v4: 14-80211958-GTTTC-G
MyVariant Identifiers: chr14:g.80678302_80678305del (hg19) chr14:g.80211959_80211962del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.80211965_80211968del , CM000676.2:g.80211965_80211968del GRCh38
NC_000014.8:g.80678308_80678311del , CM000676.1:g.80678308_80678311del GRCh37
NC_000014.7:g.79748061_79748064del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000553594.1:c.-53-437_-53-434del (DIO2) ENSP00000451265.1:n.-53-437_-53-434del
ENST00000553968.1:c.-182_-179del (DIO2) ENSP00000451339.1:n.-182_-179del
ENST00000554188.5:c.-53-437_-53-434del (DIO2) ENSP00000451136.1:n.-53-437_-53-434del
ENST00000557010.5:c.-53-437_-53-434del (DIO2) ENSP00000451419.1:n.-53-437_-53-434del
NM_000793.5:c.-53-437_-53-434del (DIO2) NP_000784.2:n.-53-437_-53-434del
NR_038355.1:n.70+477_70+480del (DIO2-AS1)
NM_000793.6:c.-53-437_-53-434del (DIO2) NP_000784.3:n.-53-437_-53-434del
NM_001324462.2:c.-182_-179del (DIO2) NP_001311391.2:n.-182_-179del
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