Canonical Allele Identifier: CA3827545

Gene: GTPBP2 POLR1C

Linked Data

• dbSNP Id: rs201929088
• ExAC: 6:43590360 C / T
• gnomAD v2: 6-43590360-C-T
• gnomAD v4: 6-43622623-C-T
• MyVariant Identifiers: chr6:g.43590360C>T (hg19) ; chr6:g.43622623C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43622623C>T , CM000668.2:g.43622623C>T	GRCh38
NC_000006.11:g.43590360C>T , CM000668.1:g.43590360C>T	GRCh37
NC_000006.10:g.43698338C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307126.10:c.1467+10G>A (GTPBP2) MANE Select	ENSP00000303997.5:n.1467+10G>A
ENST00000307114.11:c.1203+10G>A (GTPBP2)	ENSP00000304893.7:n.1203+10G>A
ENST00000307126.9:c.1467+10G>A (GTPBP2)	ENSP00000303997.5:n.1467+10G>A
ENST00000419497.5:c.172+10G>A (GTPBP2)
ENST00000432918.5:c.172+10G>A (GTPBP2)
ENST00000476510.5:n.1350+10G>A (GTPBP2)
NM_001286216.1:c.1203+10G>A (GTPBP2)	NP_001273145.1:n.1203+10G>A
NM_019096.4:c.1467+10G>A (GTPBP2)	NP_061969.3:n.1467+10G>A
XM_017010976.1:c.1472+5G>A (GTPBP2)	XP_016866465.1:n.1472+5G>A
XM_024446475.1:c.1323+10G>A (GTPBP2)	XP_024302243.1:n.1323+10G>A
XM_024446476.1:c.1323+10G>A (GTPBP2)	XP_024302244.1:n.1323+10G>A
XM_024446477.1:c.1203+10G>A (GTPBP2)	XP_024302245.1:n.1203+10G>A
XM_024446478.1:c.1203+10G>A (GTPBP2)	XP_024302246.1:n.1203+10G>A
NM_019096.5:c.1467+10G>A (GTPBP2) MANE Select	NP_061969.3:n.1467+10G>A
NM_001286216.2:c.1203+10G>A (GTPBP2)	NP_001273145.1:n.1203+10G>A
NM_001318876.2:c.945+93352C>T (POLR1C)	NP_001305805.1:n.945+93352C>T