Canonical Allele Identifier: CA1624588638
Gene: GTPBP2 HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43622621C= , CM000668.2:g.43622621C= GRCh38
NC_000006.11:g.43590358C= , CM000668.1:g.43590358C= GRCh37
NC_000006.10:g.43698336C= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000307126.10:c.1467+12G= (GTPBP2) MANE Select ENSP00000303997.5:n.1467+12G=
ENST00000307114.11:c.1203+12G= (GTPBP2) ENSP00000304893.7:n.1203+12G=
ENST00000307126.9:c.1467+12G= (GTPBP2) ENSP00000303997.5:n.1467+12G=
ENST00000419497.5:c.172+12G= (GTPBP2)
ENST00000432918.5:c.172+12G= (GTPBP2)
ENST00000476510.5:n.1350+12G= (GTPBP2)
NM_001286216.1:c.1203+12G= (GTPBP2) NP_001273145.1:n.1203+12G=
NM_019096.4:c.1467+12G= (GTPBP2) NP_061969.3:n.1467+12G=
XM_017010976.1:c.1472+7G= (GTPBP2) XP_016866465.1:n.1472+7G=
XM_024446475.1:c.1323+12G= (GTPBP2) XP_024302243.1:n.1323+12G=
XM_024446476.1:c.1323+12G= (GTPBP2) XP_024302244.1:n.1323+12G=
XM_024446477.1:c.1203+12G= (GTPBP2) XP_024302245.1:n.1203+12G=
XM_024446478.1:c.1203+12G= (GTPBP2) XP_024302246.1:n.1203+12G=
NM_019096.5:c.1467+12G= (GTPBP2) MANE Select NP_061969.3:n.1467+12G=
NM_001286216.2:c.1203+12G= (GTPBP2) NP_001273145.1:n.1203+12G=
NM_001318876.2:c.945+93350C= (POLR1C) NP_001305805.1:n.945+93350C=