Canonical Allele Identifier: CA2404964240

Gene: SUN2 GTPBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38738202C= , CM000684.2:g.38738202C=	GRCh38
NC_000022.10:g.39134207C= , CM000684.1:g.39134207C=	GRCh37
NC_000022.9:g.37464153C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_015374.3:c.2011G= (SUN2) MANE Select	NP_056189.1:p.Gly671=
ENST00000689035.1:c.2011G= (SUN2) MANE Select	ENSP00000508608.1:p.Gly671=
NM_001199579.1:c.2074G= (SUN2)	NP_001186508.1:p.Gly692=
NM_001199579.2:c.2074G= (SUN2)	NP_001186508.1:p.Gly692=
NM_001199580.1:c.2011G= (SUN2)	NP_001186509.1:p.Gly671=
NM_001199580.2:c.2011G= (SUN2)	NP_001186509.1:p.Gly671=
NM_001394427.1:c.2104G= (SUN2)	NP_001381356.1:p.Gly702=
NM_001394428.1:c.2074G= (SUN2)	NP_001381357.1:p.Gly692=
NM_001394429.1:c.2056G= (SUN2)	NP_001381358.1:p.Gly686=
NM_001394430.1:c.2056G= (SUN2)	NP_001381359.1:p.Gly686=
NM_001394431.1:c.2011G= (SUN2)	NP_001381360.1:p.Gly671=
NM_001394432.1:c.2011G= (SUN2)	NP_001381361.1:p.Gly671=
NM_001394433.1:c.2011G= (SUN2)	NP_001381362.1:p.Gly671=
NM_001394434.1:c.2011G= (SUN2)	NP_001381363.1:p.Gly671=
NM_001394435.1:c.2011G= (SUN2)	NP_001381364.1:p.Gly671=
NM_001394436.1:c.2008G= (SUN2)	NP_001381365.1:p.Gly670=
NM_001394437.1:c.2008G= (SUN2)	NP_001381366.1:p.Gly670=
NM_001394438.1:c.1921G= (SUN2)	NP_001381367.1:p.Gly641=
NM_001394439.1:c.1873G= (SUN2)	NP_001381368.1:p.Gly625=
NM_001394440.1:c.1873G= (SUN2)	NP_001381369.1:p.Gly625=
NM_001394441.1:c.1873G= (SUN2)	NP_001381370.1:p.Gly625=
NM_001394442.1:c.1612G= (SUN2)	NP_001381371.1:p.Gly538=
NM_001394443.1:c.1519G= (SUN2)	NP_001381372.1:p.Gly507=
NM_001394444.1:c.1435G= (SUN2)	NP_001381373.1:p.Gly479=
NM_001394445.1:c.1435G= (SUN2)	NP_001381374.1:p.Gly479=
NM_015374.2:c.2011G= (SUN2)	NP_056189.1:p.Gly671=
ENST00000405018.5:c.2074G= (SUN2)	ENSP00000385616.1:p.Gly692=
ENST00000405510.5:c.2011G= (SUN2)	ENSP00000385740.1:p.Gly671=
ENST00000406622.5:c.2011G= (SUN2)	ENSP00000383992.1:p.Gly671=
ENST00000455125.1:c.430G= (SUN2)	ENSP00000390154.1:p.Gly144=
ENST00000455125.2:c.2011G= (SUN2)	ENSP00000390154.2:p.Gly671=
ENST00000456894.6:c.1873G= (SUN2)	ENSP00000415588.3:p.Gly625=
ENST00000458073.5:c.1253C= (GTPBP1)	ENSP00000388147.1:n.1253C=
ENST00000489527.1:c.325C= (GTPBP1)
ENST00000690927.1:c.1777G= (SUN2)	ENSP00000508791.1:p.Gly593=
XM_011530104.1:c.1873G= (SUN2)	XP_011528406.1:p.Gly625=
XM_011530104.2:c.1873G= (SUN2)	XP_011528406.1:p.Gly625=
XM_011530105.1:c.1978G= (SUN2)	XP_011528407.1:p.Gly660=
XM_011530105.2:c.1978G= (SUN2)	XP_011528407.1:p.Gly660=
XM_011530537.2:c.*203C= (GTPBP1)	XP_011528839.1:n.*203C=
XM_017028748.1:c.2011G= (SUN2)	XP_016884237.1:p.Gly671=
XM_024452203.1:c.2290G= (SUN2)	XP_024307971.1:p.Gly764=
XM_024452204.1:c.2116G= (SUN2)	XP_024307972.1:p.Gly706=
XM_024452205.1:c.2011G= (SUN2)	XP_024307973.1:p.Gly671=
XM_024452206.1:c.1873G= (SUN2)	XP_024307974.1:p.Gly625=