Canonical Allele Identifier: CA2678890102

Gene: GTPBP2 POLR1C

Linked Data

• gnomAD v4: 6-43622538-TTTCTCTGAAGCACCTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43622539_43622555del , CM000668.2:g.43622539_43622555del	GRCh38
NC_000006.11:g.43590276_43590292del , CM000668.1:g.43590276_43590292del	GRCh37
NC_000006.10:g.43698254_43698270del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307126.10:c.1467+78_1467+94del (GTPBP2) MANE Select	ENSP00000303997.5:n.1467+78_1467+94del
ENST00000307114.11:c.1203+78_1203+94del (GTPBP2)	ENSP00000304893.7:n.1203+78_1203+94del
ENST00000307126.9:c.1467+78_1467+94del (GTPBP2)	ENSP00000303997.5:n.1467+78_1467+94del
ENST00000419497.5:c.172+78_172+94del (GTPBP2)
ENST00000432918.5:c.172+78_172+94del (GTPBP2)
ENST00000476510.5:n.1350+78_1350+94del (GTPBP2)
NM_001286216.1:c.1203+78_1203+94del (GTPBP2)	NP_001273145.1:n.1203+78_1203+94del
NM_019096.4:c.1467+78_1467+94del (GTPBP2)	NP_061969.3:n.1467+78_1467+94del
XM_017010976.1:c.1472+73_1472+89del (GTPBP2)	XP_016866465.1:n.1472+73_1472+89del
XM_024446475.1:c.1323+78_1323+94del (GTPBP2)	XP_024302243.1:n.1323+78_1323+94del
XM_024446476.1:c.1323+78_1323+94del (GTPBP2)	XP_024302244.1:n.1323+78_1323+94del
XM_024446477.1:c.1203+78_1203+94del (GTPBP2)	XP_024302245.1:n.1203+78_1203+94del
XM_024446478.1:c.1203+78_1203+94del (GTPBP2)	XP_024302246.1:n.1203+78_1203+94del
NM_019096.5:c.1467+78_1467+94del (GTPBP2) MANE Select	NP_061969.3:n.1467+78_1467+94del
NM_001286216.2:c.1203+78_1203+94del (GTPBP2)	NP_001273145.1:n.1203+78_1203+94del
NM_001318876.2:c.945+93268_945+93284del (POLR1C)	NP_001305805.1:n.945+93268_945+93284del