Canonical Allele Identifier: CA138311221
Gene: GTPBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 544689
ClinVar RCV Id: RCV000655892
dbSNP Id: rs1007812513

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43622692G>A , CM000668.2:g.43622692G>A GRCh38
NC_000006.11:g.43590429G>A , CM000668.1:g.43590429G>A GRCh37
NC_000006.10:g.43698407G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000307114.11:c.1144C>T ENSP00000304893.7:p.Arg382Ter
ENST00000307126.9:n.1408C>T ENSP00000303997.5:p.Arg470Ter
NM_001286216.1:c.1144C>T NP_001273145.1:p.Arg382Ter
NM_019096.4:c.1408C>T NP_061969.3:p.Arg470Ter
XM_017010976.1:c.1408C>T XP_016866465.1:p.Arg470Ter
XM_024446475.1:c.1264C>T XP_024302243.1:p.Arg422Ter
XM_024446476.1:c.1264C>T XP_024302244.1:p.Arg422Ter
XM_024446477.1:c.1144C>T XP_024302245.1:p.Arg382Ter
XM_024446478.1:c.1144C>T XP_024302246.1:p.Arg382Ter
NM_019096.5:c.1408C>T MANE Select NP_061969.3:p.Arg470Ter
NM_001286216.2:c.1144C>T NP_001273145.1:p.Arg382Ter