Canonical Allele Identifier: CA2270404817

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.64496448A= , CM000679.2:g.64496448A= GRCh38
NC_000017.10:g.62492566A= , CM000679.1:g.62492566A= GRCh37
NC_000017.9:g.59923028A= NCBI36
NG_013029.1:g.5619T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000539111.7:c.521T= (POLG2) MANE Select ENSP00000442563.2:p.Val174=
ENST00000585104.2:n.492T= (POLG2)
ENST00000671755.1:c.492T= (POLG2)
ENST00000673460.1:c.492T= (POLG2)
ENST00000539111.6:c.521T= (POLG2) ENSP00000442563.2:p.Val174=
ENST00000578997.1:c.224+84T= (POLG2) ENSP00000464389.1:n.224+84T=
ENST00000585141.5:n.572T= (POLG2)
NM_007215.3:c.521T= (POLG2) NP_009146.2:p.Val174=
XM_006721651.2:c.521T= (POLG2) XP_006721714.1:p.Val174=
XR_243630.1:n.572T= (POLG2)
XR_934357.1:n.572T= (POLG2)
XR_934358.1:n.572T= (POLG2)
XM_024450708.1:c.*156A= (MILR1) XP_024306476.1:n.*156A=
XR_002957990.1:n.1398A= (MILR1)
NM_007215.4:c.521T= (POLG2) MANE Select NP_009146.2:p.Val174=