Canonical Allele Identifier: CA1624588526
Gene: GTPBP2 HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43622519A= , CM000668.2:g.43622519A= GRCh38
NC_000006.11:g.43590256A= , CM000668.1:g.43590256A= GRCh37
NC_000006.10:g.43698234A= NCBI36
NG_009252.1:g.51379A= , LRG_470:g.51379A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307126.10:c.1467+114T= (GTPBP2) MANE Select ENSP00000303997.5:n.1467+114T=
ENST00000307114.11:c.1203+114T= (GTPBP2) ENSP00000304893.7:n.1203+114T=
ENST00000307126.9:c.1467+114T= (GTPBP2) ENSP00000303997.5:n.1467+114T=
ENST00000419497.5:c.172+114T= (GTPBP2)
ENST00000432918.5:c.172+114T= (GTPBP2)
ENST00000476510.5:n.1350+114T= (GTPBP2)
NM_001286216.1:c.1203+114T= (GTPBP2) NP_001273145.1:n.1203+114T=
NM_019096.4:c.1467+114T= (GTPBP2) NP_061969.3:n.1467+114T=
XM_017010976.1:c.1472+109T= (GTPBP2) XP_016866465.1:n.1472+109T=
XM_024446475.1:c.1323+114T= (GTPBP2) XP_024302243.1:n.1323+114T=
XM_024446476.1:c.1323+114T= (GTPBP2) XP_024302244.1:n.1323+114T=
XM_024446477.1:c.1203+114T= (GTPBP2) XP_024302245.1:n.1203+114T=
XM_024446478.1:c.1203+114T= (GTPBP2) XP_024302246.1:n.1203+114T=
NM_019096.5:c.1467+114T= (GTPBP2) MANE Select NP_061969.3:n.1467+114T=
NM_001286216.2:c.1203+114T= (GTPBP2) NP_001273145.1:n.1203+114T=
NM_001318876.2:c.945+93248A= (POLR1C) NP_001305805.1:n.945+93248A=