Canonical Allele Identifier: CA619512932

Gene: POLG

Linked Data

• ClinVar Variation Id: 2977961
• ClinVar RCV Id: RCV003834559
• dbSNP Id: rs1374175231
• gnomAD v2: 15-89866615-G-A
• gnomAD v4: 15-89323384-G-A
• MyVariant Identifiers: chr15:g.89866615G>A (hg19) ; chr15:g.89323384G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323384G>A , CM000677.2:g.89323384G>A	GRCh38
NC_000015.9:g.89866615G>A , CM000677.1:g.89866615G>A	GRCh37
NC_000015.8:g.87667619G>A	NCBI36
NG_008218.1:g.16412C>T
NG_008218.2:g.16412C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2265+20C>T	ENSP00000516154.1:n.2265+20C>T
ENST00000268124.11:c.2265+20C>T MANE Select	ENSP00000268124.5:n.2265+20C>T
ENST00000530292.3:c.1866+20C>T	ENSP00000432885.2:n.1866+20C>T
ENST00000635986.2:c.2265+20C>T	ENSP00000490653.2:n.2265+20C>T
ENST00000636774.1:c.*832+20C>T	ENSP00000489799.1:n.*832+20C>T
ENST00000637238.1:c.962+20C>T	ENSP00000490756.1:n.962+20C>T
ENST00000637264.1:c.1337+20C>T
ENST00000666746.1:c.1842+20C>T
ENST00000670281.1:c.585+20C>T	ENSP00000499709.1:n.585+20C>T
ENST00000672071.1:n.2463+20C>T
ENST00000672923.2:n.2368+20C>T
ENST00000268124.9:c.2265+20C>T	ENSP00000268124.5:n.2265+20C>T
ENST00000442287.6:c.2265+20C>T	ENSP00000399851.2:n.2265+20C>T
ENST00000526314.2:c.539+431C>T
ENST00000526398.1:c.414+20C>T
ENST00000528881.2:c.34+20C>T
ENST00000530715.5:c.24+20C>T	ENSP00000431395.1:n.24+20C>T
ENST00000532584.5:n.467+20C>T
ENST00000631044.2:c.*1689+20C>T	ENSP00000486730.1:n.*1689+20C>T
NM_001126131.1:c.2265+20C>T	NP_001119603.1:n.2265+20C>T
NM_002693.2:c.2265+20C>T	NP_002684.1:n.2265+20C>T
NM_001126131.2:c.2265+20C>T	NP_001119603.1:n.2265+20C>T
NM_002693.3:c.2265+20C>T MANE Select	NP_002684.1:n.2265+20C>T