Canonical Allele Identifier: CA292830

Gene: POLG

Linked Data

• ClinVar Variation Id: 138747
• ClinVar RCV Id: RCV000212876 ; RCV000474664 ; RCV000676323 ; RCV001847750 ; RCV001327991 ; RCV003985729
• dbSNP Id: rs2307448
• ExAC: 15:89865091 G / A
• gnomAD v2: 15-89865091-G-A
• gnomAD v3: 15-89321860-G-A
• gnomAD v4: 15-89321860-G-A
• MyVariant Identifiers: chr15:g.89865091G>A (hg19) ; chr15:g.89321860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321860G>A , CM000677.2:g.89321860G>A	GRCh38
NC_000015.9:g.89865091G>A , CM000677.1:g.89865091G>A	GRCh37
NC_000015.8:g.87666095G>A	NCBI36
NG_008218.1:g.17936C>T
NG_008218.2:g.17936C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2481-7C>T	ENSP00000516154.1:n.2481-7C>T
ENST00000268124.11:c.2481-7C>T MANE Select	ENSP00000268124.5:n.2481-7C>T
ENST00000530292.3:c.2082-7C>T	ENSP00000432885.2:n.2082-7C>T
ENST00000635986.2:c.2481-7C>T	ENSP00000490653.2:n.2481-7C>T
ENST00000636774.1:c.*1048-7C>T	ENSP00000489799.1:n.*1048-7C>T
ENST00000637238.1:c.1178-7C>T	ENSP00000490756.1:n.1178-7C>T
ENST00000637264.1:c.1553-7C>T
ENST00000666746.1:c.2058-7C>T
ENST00000670281.1:c.800+102C>T	ENSP00000499709.1:n.800+102C>T
ENST00000672071.1:n.2679-7C>T
ENST00000672923.2:n.2423-7C>T
ENST00000268124.9:c.2481-7C>T	ENSP00000268124.5:n.2481-7C>T
ENST00000442287.6:c.2481-7C>T	ENSP00000399851.2:n.2481-7C>T
ENST00000528881.2:c.196-600C>T
ENST00000530715.5:c.185+882C>T	ENSP00000431395.1:n.185+882C>T
ENST00000532584.5:n.623C>T
ENST00000631044.2:c.*1905-7C>T	ENSP00000486730.1:n.*1905-7C>T
NM_001126131.1:c.2481-7C>T	NP_001119603.1:n.2481-7C>T
NM_002693.2:c.2481-7C>T	NP_002684.1:n.2481-7C>T
NM_001126131.2:c.2481-7C>T	NP_001119603.1:n.2481-7C>T
NM_002693.3:c.2481-7C>T MANE Select	NP_002684.1:n.2481-7C>T