Canonical Allele Identifier: CA2194550782
Community Standard Title: NM_002693.3(POLG):c.2492A= (p.Tyr831=)
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321842T= , CM000677.2:g.89321842T= GRCh38
NC_000015.9:g.89865073T= , CM000677.1:g.89865073T= GRCh37
NC_000015.8:g.87666077T= NCBI36
NG_008218.1:g.17954A=
NG_008218.2:g.17954A=

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.2492A= MANE Select NP_002684.1:p.Tyr831=
ENST00000268124.11:c.2492A= MANE Select ENSP00000268124.5:p.Tyr831=
NM_001126131.1:c.2492A= NP_001119603.1:p.Tyr831=
NM_001126131.2:c.2492A= NP_001119603.1:p.Tyr831=
NM_002693.2:c.2492A= NP_002684.1:p.Tyr831=
ENST00000268124.9:c.2492A= ENSP00000268124.5:p.Tyr831=
ENST00000442287.6:c.2492A= ENSP00000399851.2:p.Tyr831=
ENST00000528881.2:c.196-582A=
ENST00000530292.3:c.2093A= ENSP00000432885.2:p.Tyr698=
ENST00000530715.5:c.185+900A= ENSP00000431395.1:n.185+900A=
ENST00000532584.5:n.641A=
ENST00000631044.2:c.*1916A= ENSP00000486730.1:n.*1916A=
ENST00000635986.2:c.2492A= ENSP00000490653.2:p.Tyr831=
ENST00000636774.1:c.*1059A= ENSP00000489799.1:n.*1059A=
ENST00000636937.2:c.2492A= ENSP00000516154.1:p.Tyr831=
ENST00000637238.1:c.1189A= ENSP00000490756.1:n.1189A=
ENST00000637264.1:c.1564A=
ENST00000666746.1:c.2069A=
ENST00000670281.1:c.800+120A= ENSP00000499709.1:n.800+120A=
ENST00000672071.1:n.2690A=
ENST00000672923.2:n.2434A=