Canonical Allele Identifier: CA10235662
Community Standard Title: NM_015374.3(SUN2):c.1136G>A (p.Arg379Gln)
Gene: SUN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38741504C>T , CM000684.2:g.38741504C>T GRCh38
NC_000022.10:g.39137509C>T , CM000684.1:g.39137509C>T GRCh37
NC_000022.9:g.37467455C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015374.3:c.1136G>A MANE Select NP_056189.1:p.Arg379Gln
ENST00000689035.1:c.1136G>A MANE Select ENSP00000508608.1:p.Arg379Gln
NM_001199579.1:c.1199G>A NP_001186508.1:p.Arg400Gln
NM_001199579.2:c.1199G>A NP_001186508.1:p.Arg400Gln
NM_001199580.1:c.1136G>A NP_001186509.1:p.Arg379Gln
NM_001199580.2:c.1136G>A NP_001186509.1:p.Arg379Gln
NM_001394427.1:c.1229G>A NP_001381356.1:p.Arg410Gln
NM_001394428.1:c.1199G>A NP_001381357.1:p.Arg400Gln
NM_001394429.1:c.1181G>A NP_001381358.1:p.Arg394Gln
NM_001394430.1:c.1181G>A NP_001381359.1:p.Arg394Gln
NM_001394431.1:c.1136G>A NP_001381360.1:p.Arg379Gln
NM_001394432.1:c.1136G>A NP_001381361.1:p.Arg379Gln
NM_001394433.1:c.1136G>A NP_001381362.1:p.Arg379Gln
NM_001394434.1:c.1136G>A NP_001381363.1:p.Arg379Gln
NM_001394435.1:c.1136G>A NP_001381364.1:p.Arg379Gln
NM_001394436.1:c.1136G>A NP_001381365.1:p.Arg379Gln
NM_001394437.1:c.1136G>A NP_001381366.1:p.Arg379Gln
NM_001394438.1:c.1046G>A NP_001381367.1:p.Arg349Gln
NM_001394439.1:c.998G>A NP_001381368.1:p.Arg333Gln
NM_001394440.1:c.998G>A NP_001381369.1:p.Arg333Gln
NM_001394441.1:c.998G>A NP_001381370.1:p.Arg333Gln
NM_001394442.1:c.814-1094G>A NP_001381371.1:n.814-1094G>A
NM_001394443.1:c.644G>A NP_001381372.1:p.Arg215Gln
NM_001394444.1:c.615-1072G>A NP_001381373.1:n.615-1072G>A
NM_001394445.1:c.615-1072G>A NP_001381374.1:n.615-1072G>A
NM_015374.2:c.1136G>A NP_056189.1:p.Arg379Gln
ENST00000405018.5:c.1199G>A ENSP00000385616.1:p.Arg400Gln
ENST00000405510.5:c.1136G>A ENSP00000385740.1:p.Arg379Gln
ENST00000406622.5:c.1136G>A ENSP00000383992.1:p.Arg379Gln
ENST00000455125.2:c.1136G>A ENSP00000390154.2:p.Arg379Gln
ENST00000456894.6:c.998G>A ENSP00000415588.3:p.Arg333Gln
ENST00000464202.1:n.346G>A
ENST00000469086.5:n.249G>A
ENST00000477262.5:n.206G>A
ENST00000690927.1:c.902G>A ENSP00000508791.1:p.Arg301Gln
XM_011530104.1:c.998G>A XP_011528406.1:p.Arg333Gln
XM_011530104.2:c.998G>A XP_011528406.1:p.Arg333Gln
XM_011530105.1:c.1103G>A XP_011528407.1:p.Arg368Gln
XM_011530105.2:c.1103G>A XP_011528407.1:p.Arg368Gln
XM_017028748.1:c.1136G>A XP_016884237.1:p.Arg379Gln
XM_024452203.1:c.1415G>A XP_024307971.1:p.Arg472Gln
XM_024452204.1:c.1241G>A XP_024307972.1:p.Arg414Gln
XM_024452205.1:c.1136G>A XP_024307973.1:p.Arg379Gln
XM_024452206.1:c.998G>A XP_024307974.1:p.Arg333Gln