Canonical Allele Identifier: CA411582386

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38736299G>A , CM000684.2:g.38736299G>A GRCh38
NC_000022.10:g.39132304G>A , CM000684.1:g.39132304G>A GRCh37
NC_000022.9:g.37462250G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015374.3:c.2122C>T (SUN2) MANE Select NP_056189.1:p.Arg708Cys
ENST00000689035.1:c.2122C>T (SUN2) MANE Select ENSP00000508608.1:p.Arg708Cys
NM_001199579.1:c.2185C>T (SUN2) NP_001186508.1:p.Arg729Cys
NM_001199579.2:c.2185C>T (SUN2) NP_001186508.1:p.Arg729Cys
NM_001199580.1:c.2122C>T (SUN2) NP_001186509.1:p.Arg708Cys
NM_001199580.2:c.2122C>T (SUN2) NP_001186509.1:p.Arg708Cys
NM_001394427.1:c.2215C>T (SUN2) NP_001381356.1:p.Arg739Cys
NM_001394428.1:c.2185C>T (SUN2) NP_001381357.1:p.Arg729Cys
NM_001394429.1:c.2167C>T (SUN2) NP_001381358.1:p.Arg723Cys
NM_001394430.1:c.2167C>T (SUN2) NP_001381359.1:p.Arg723Cys
NM_001394432.1:c.2122C>T (SUN2) NP_001381361.1:p.Arg708Cys
NM_001394433.1:c.2122C>T (SUN2) NP_001381362.1:p.Arg708Cys
NM_001394434.1:c.2122C>T (SUN2) NP_001381363.1:p.Arg708Cys
NM_001394435.1:c.2122C>T (SUN2) NP_001381364.1:p.Arg708Cys
NM_001394436.1:c.2119C>T (SUN2) NP_001381365.1:p.Arg707Cys
NM_001394437.1:c.2119C>T (SUN2) NP_001381366.1:p.Arg707Cys
NM_001394438.1:c.2032C>T (SUN2) NP_001381367.1:p.Arg678Cys
NM_001394439.1:c.1984C>T (SUN2) NP_001381368.1:p.Arg662Cys
NM_001394440.1:c.1984C>T (SUN2) NP_001381369.1:p.Arg662Cys
NM_001394441.1:c.1984C>T (SUN2) NP_001381370.1:p.Arg662Cys
NM_001394442.1:c.1723C>T (SUN2) NP_001381371.1:p.Arg575Cys
NM_001394443.1:c.1630C>T (SUN2) NP_001381372.1:p.Arg544Cys
NM_001394444.1:c.1546C>T (SUN2) NP_001381373.1:p.Arg516Cys
NM_001394445.1:c.1546C>T (SUN2) NP_001381374.1:p.Arg516Cys
NM_015374.2:c.2122C>T (SUN2) NP_056189.1:p.Arg708Cys
ENST00000405018.5:c.2185C>T (SUN2) ENSP00000385616.1:p.Arg729Cys
ENST00000405510.5:c.2122C>T (SUN2) ENSP00000385740.1:p.Arg708Cys
ENST00000406622.5:c.2122C>T (SUN2) ENSP00000383992.1:p.Arg708Cys
ENST00000456894.6:c.1984C>T (SUN2) ENSP00000415588.3:p.Arg662Cys
ENST00000458073.5:c.1001+43G>A (GTPBP1) ENSP00000388147.1:n.1001+43G>A
ENST00000489527.1:c.74-1652G>A (GTPBP1)
ENST00000690927.1:c.1888C>T (SUN2) ENSP00000508791.1:p.Arg630Cys
XM_011530104.1:c.1984C>T (SUN2) XP_011528406.1:p.Arg662Cys
XM_011530104.2:c.1984C>T (SUN2) XP_011528406.1:p.Arg662Cys
XM_011530105.1:c.2089C>T (SUN2) XP_011528407.1:p.Arg697Cys
XM_011530105.2:c.2089C>T (SUN2) XP_011528407.1:p.Arg697Cys
XM_011530537.1:c.2064-1652G>A (GTPBP1) XP_011528839.1:n.2064-1652G>A
XM_011530537.2:c.2064-1652G>A (GTPBP1) XP_011528839.1:n.2064-1652G>A
XM_011530538.1:c.2040-1652G>A (GTPBP1) XP_011528840.1:n.2040-1652G>A
XM_011530541.1:c.1914-1652G>A (GTPBP1) XP_011528843.1:n.1914-1652G>A
XM_011530542.1:c.1728-1652G>A (GTPBP1) XP_011528844.1:n.1728-1652G>A
XM_011530543.1:c.1704-1652G>A (GTPBP1) XP_011528845.1:n.1704-1652G>A
XM_024452203.1:c.2401C>T (SUN2) XP_024307971.1:p.Arg801Cys
XM_024452204.1:c.2227C>T (SUN2) XP_024307972.1:p.Arg743Cys
XM_024452205.1:c.2122C>T (SUN2) XP_024307973.1:p.Arg708Cys
XM_024452206.1:c.1984C>T (SUN2) XP_024307974.1:p.Arg662Cys