Canonical Allele Identifier: CA613832645

Gene: POLE2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49647279G>A , CM000676.2:g.49647279G>A	GRCh38
NC_000014.8:g.50113997G>A , CM000676.1:g.50113997G>A	GRCh37
NC_000014.7:g.49183747G>A	NCBI36
NG_052877.1:g.46139C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002692.4:c.1565+14C>T MANE Select	NP_002683.2:n.1565+14C>T
ENST00000216367.10:c.1565+14C>T MANE Select	ENSP00000216367.5:n.1565+14C>T
NM_001197330.1:c.1487+14C>T	NP_001184259.1:n.1487+14C>T
NM_001197330.2:c.1487+14C>T	NP_001184259.1:n.1487+14C>T
NM_001348384.1:c.1562+14C>T	NP_001335313.1:n.1562+14C>T
NM_001348384.2:c.1562+14C>T	NP_001335313.1:n.1562+14C>T
NM_001348385.1:c.1334+14C>T	NP_001335314.1:n.1334+14C>T
NM_001348385.2:c.1334+14C>T	NP_001335314.1:n.1334+14C>T
NM_002692.3:c.1565+14C>T	NP_002683.2:n.1565+14C>T
ENST00000216367.9:c.1565+14C>T	ENSP00000216367.5:n.1565+14C>T
ENST00000539565.6:c.1487+14C>T	ENSP00000446313.2:n.1487+14C>T
ENST00000554671.5:n.68+14C>T
ENST00000554851.5:n.393+2986C>T
ENST00000555724.5:n.68+14C>T
ENST00000556584.5:n.1483+14C>T
ENST00000556937.5:n.552+14C>T
ENST00000700174.1:c.544+14C>T
ENST00000700175.1:c.1055+14C>T	ENSP00000514843.1:n.1055+14C>T
XM_011536841.1:c.1565+14C>T	XP_011535143.1:n.1565+14C>T
XM_011536842.1:c.1487+14C>T	XP_011535144.1:n.1487+14C>T
XM_011536842.2:c.1487+14C>T	XP_011535144.1:n.1487+14C>T
XM_011536843.1:c.1334+14C>T	XP_011535145.1:n.1334+14C>T
XM_011536843.2:c.1334+14C>T	XP_011535145.1:n.1334+14C>T
XM_017021374.1:c.1565+14C>T	XP_016876863.1:n.1565+14C>T
XR_001750377.1:n.1590C>T
XR_001750378.1:n.1535C>T
XR_943479.1:n.1521+14C>T
XR_943480.1:n.1348+14C>T