Canonical Allele Identifier: CA10235307

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38736343C>T , CM000684.2:g.38736343C>T GRCh38
NC_000022.10:g.39132348C>T , CM000684.1:g.39132348C>T GRCh37
NC_000022.9:g.37462294C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000456894.6:c.1940G>A (SUN2) ENSP00000415588.3:p.Arg647Gln
ENST00000689035.1:c.2078G>A (SUN2) MANE Select ENSP00000508608.1:p.Arg693Gln
ENST00000690927.1:c.1844G>A (SUN2) ENSP00000508791.1:p.Arg615Gln
ENST00000405018.5:c.2141G>A (SUN2) ENSP00000385616.1:p.Arg714Gln
ENST00000405510.5:c.2078G>A (SUN2) ENSP00000385740.1:p.Arg693Gln
ENST00000406622.5:c.2078G>A (SUN2) ENSP00000383992.1:p.Arg693Gln
ENST00000458073.5:c.1001+87C>T (GTPBP1) ENSP00000388147.1:n.1001+87C>T
ENST00000489527.1:c.74-1608C>T (GTPBP1)
NM_001199579.1:c.2141G>A (SUN2) NP_001186508.1:p.Arg714Gln
NM_001199580.1:c.2078G>A (SUN2) NP_001186509.1:p.Arg693Gln
NM_015374.2:c.2078G>A (SUN2) NP_056189.1:p.Arg693Gln
XM_011530104.1:c.1940G>A (SUN2) XP_011528406.1:p.Arg647Gln
XM_011530105.1:c.2045G>A (SUN2) XP_011528407.1:p.Arg682Gln
XM_011530537.1:c.2064-1608C>T (GTPBP1) XP_011528839.1:n.2064-1608C>T
XM_011530538.1:c.2040-1608C>T (GTPBP1) XP_011528840.1:n.2040-1608C>T
XM_011530541.1:c.1914-1608C>T (GTPBP1) XP_011528843.1:n.1914-1608C>T
XM_011530542.1:c.1728-1608C>T (GTPBP1) XP_011528844.1:n.1728-1608C>T
XM_011530543.1:c.1704-1608C>T (GTPBP1) XP_011528845.1:n.1704-1608C>T
XM_011530104.2:c.1940G>A (SUN2) XP_011528406.1:p.Arg647Gln
XM_011530105.2:c.2045G>A (SUN2) XP_011528407.1:p.Arg682Gln
XM_011530537.2:c.2064-1608C>T (GTPBP1) XP_011528839.1:n.2064-1608C>T
XM_024452203.1:c.2357G>A (SUN2) XP_024307971.1:p.Arg786Gln
XM_024452204.1:c.2183G>A (SUN2) XP_024307972.1:p.Arg728Gln
XM_024452205.1:c.2078G>A (SUN2) XP_024307973.1:p.Arg693Gln
XM_024452206.1:c.1940G>A (SUN2) XP_024307974.1:p.Arg647Gln
NM_001199579.2:c.2141G>A (SUN2) NP_001186508.1:p.Arg714Gln
NM_001199580.2:c.2078G>A (SUN2) NP_001186509.1:p.Arg693Gln
NM_015374.3:c.2078G>A (SUN2) MANE Select NP_056189.1:p.Arg693Gln
NM_001394427.1:c.2171G>A (SUN2) NP_001381356.1:p.Arg724Gln
NM_001394428.1:c.2141G>A (SUN2) NP_001381357.1:p.Arg714Gln
NM_001394429.1:c.2123G>A (SUN2) NP_001381358.1:p.Arg708Gln
NM_001394430.1:c.2123G>A (SUN2) NP_001381359.1:p.Arg708Gln
NM_001394432.1:c.2078G>A (SUN2) NP_001381361.1:p.Arg693Gln
NM_001394433.1:c.2078G>A (SUN2) NP_001381362.1:p.Arg693Gln
NM_001394434.1:c.2078G>A (SUN2) NP_001381363.1:p.Arg693Gln
NM_001394435.1:c.2078G>A (SUN2) NP_001381364.1:p.Arg693Gln
NM_001394436.1:c.2075G>A (SUN2) NP_001381365.1:p.Arg692Gln
NM_001394437.1:c.2075G>A (SUN2) NP_001381366.1:p.Arg692Gln
NM_001394438.1:c.1988G>A (SUN2) NP_001381367.1:p.Arg663Gln
NM_001394439.1:c.1940G>A (SUN2) NP_001381368.1:p.Arg647Gln
NM_001394440.1:c.1940G>A (SUN2) NP_001381369.1:p.Arg647Gln
NM_001394441.1:c.1940G>A (SUN2) NP_001381370.1:p.Arg647Gln
NM_001394442.1:c.1679G>A (SUN2) NP_001381371.1:p.Arg560Gln
NM_001394443.1:c.1586G>A (SUN2) NP_001381372.1:p.Arg529Gln
NM_001394444.1:c.1502G>A (SUN2) NP_001381373.1:p.Arg501Gln
NM_001394445.1:c.1502G>A (SUN2) NP_001381374.1:p.Arg501Gln