Canonical Allele Identifier: CA393747166
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 597808
ClinVar RCV Id: RCV001526407 RCV002507306
dbSNP Id: rs1335880349
gnomAD v2: 15-89860605-A-G
gnomAD v4: 15-89317374-A-G
MyVariant Identifiers: chr15:g.89860605A>G (hg19) chr15:g.89317374A>G (hg38)
ERepo: CA393747166/MONDO:0044970/014
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317374A>G , CM000677.2:g.89317374A>G GRCh38
NC_000015.9:g.89860605A>G , CM000677.1:g.89860605A>G GRCh37
NC_000015.8:g.87661609A>G NCBI36
NG_008218.1:g.22422T>C
NG_011736.1:g.78412A>G , LRG_500:g.78412A>G
NG_008218.2:g.22422T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.3643+2T>C ENSP00000516154.1:n.3643+2T>C
ENST00000268124.11:c.3643+2T>C MANE Select ENSP00000268124.5:n.3643+2T>C
ENST00000530292.3:c.3343+2T>C ENSP00000432885.2:n.3343+2T>C
ENST00000635986.2:c.*713+2T>C ENSP00000490653.2:n.*713+2T>C
ENST00000636774.1:c.*2247+2T>C ENSP00000489799.1:n.*2247+2T>C
ENST00000637238.1:c.2551+2T>C ENSP00000490756.1:n.2551+2T>C
ENST00000637264.1:c.2655+2T>C
ENST00000666746.1:c.3220+2T>C
ENST00000672071.1:n.4845+2T>C
ENST00000672695.1:n.1422+2T>C
ENST00000672923.2:n.3643+2T>C
ENST00000268124.9:c.3643+2T>C ENSP00000268124.5:n.3643+2T>C
ENST00000442287.6:c.3643+2T>C ENSP00000399851.2:n.3643+2T>C
ENST00000526671.1:n.453+2T>C
ENST00000530292.2:c.826+2T>C ENSP00000432885.1:n.826+2T>C
ENST00000631044.2:c.*3067+2T>C ENSP00000486730.1:n.*3067+2T>C
NM_001126131.1:c.3643+2T>C NP_001119603.1:n.3643+2T>C
NM_002693.2:c.3643+2T>C NP_002684.1:n.3643+2T>C
NM_001126131.2:c.3643+2T>C NP_001119603.1:n.3643+2T>C
NM_002693.3:c.3643+2T>C MANE Select NP_002684.1:n.3643+2T>C
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