Canonical Allele Identifier: CA324300299
Community Standard Title: NM_015374.3(SUN2):c.1301C>T (p.Ser434Leu)
Gene: SUN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38740322G>A , CM000684.2:g.38740322G>A GRCh38
NC_000022.10:g.39136327G>A , CM000684.1:g.39136327G>A GRCh37
NC_000022.9:g.37466273G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015374.3:c.1301C>T MANE Select NP_056189.1:p.Ser434Leu
ENST00000689035.1:c.1301C>T MANE Select ENSP00000508608.1:p.Ser434Leu
NM_001199579.1:c.1364C>T NP_001186508.1:p.Ser455Leu
NM_001199579.2:c.1364C>T NP_001186508.1:p.Ser455Leu
NM_001199580.1:c.1301C>T NP_001186509.1:p.Ser434Leu
NM_001199580.2:c.1301C>T NP_001186509.1:p.Ser434Leu
NM_001394427.1:c.1394C>T NP_001381356.1:p.Ser465Leu
NM_001394428.1:c.1364C>T NP_001381357.1:p.Ser455Leu
NM_001394429.1:c.1346C>T NP_001381358.1:p.Ser449Leu
NM_001394430.1:c.1346C>T NP_001381359.1:p.Ser449Leu
NM_001394431.1:c.1301C>T NP_001381360.1:p.Ser434Leu
NM_001394432.1:c.1301C>T NP_001381361.1:p.Ser434Leu
NM_001394433.1:c.1301C>T NP_001381362.1:p.Ser434Leu
NM_001394434.1:c.1301C>T NP_001381363.1:p.Ser434Leu
NM_001394435.1:c.1301C>T NP_001381364.1:p.Ser434Leu
NM_001394436.1:c.1301C>T NP_001381365.1:p.Ser434Leu
NM_001394437.1:c.1301C>T NP_001381366.1:p.Ser434Leu
NM_001394438.1:c.1211C>T NP_001381367.1:p.Ser404Leu
NM_001394439.1:c.1163C>T NP_001381368.1:p.Ser388Leu
NM_001394440.1:c.1163C>T NP_001381369.1:p.Ser388Leu
NM_001394441.1:c.1163C>T NP_001381370.1:p.Ser388Leu
NM_001394442.1:c.902C>T NP_001381371.1:p.Ser301Leu
NM_001394443.1:c.809C>T NP_001381372.1:p.Ser270Leu
NM_001394444.1:c.725C>T NP_001381373.1:p.Ser242Leu
NM_001394445.1:c.725C>T NP_001381374.1:p.Ser242Leu
NM_015374.2:c.1301C>T NP_056189.1:p.Ser434Leu
ENST00000405018.5:c.1364C>T ENSP00000385616.1:p.Ser455Leu
ENST00000405510.5:c.1301C>T ENSP00000385740.1:p.Ser434Leu
ENST00000406622.5:c.1301C>T ENSP00000383992.1:p.Ser434Leu
ENST00000455125.2:c.1301C>T ENSP00000390154.2:p.Ser434Leu
ENST00000456894.6:c.1163C>T ENSP00000415588.3:p.Ser388Leu
ENST00000464202.1:n.511C>T
ENST00000469086.5:n.988C>T
ENST00000477262.5:n.489C>T
ENST00000690927.1:c.1067C>T ENSP00000508791.1:p.Ser356Leu
XM_011530104.1:c.1163C>T XP_011528406.1:p.Ser388Leu
XM_011530104.2:c.1163C>T XP_011528406.1:p.Ser388Leu
XM_011530105.1:c.1268C>T XP_011528407.1:p.Ser423Leu
XM_011530105.2:c.1268C>T XP_011528407.1:p.Ser423Leu
XM_017028748.1:c.1301C>T XP_016884237.1:p.Ser434Leu
XM_024452203.1:c.1580C>T XP_024307971.1:p.Ser527Leu
XM_024452204.1:c.1406C>T XP_024307972.1:p.Ser469Leu
XM_024452205.1:c.1301C>T XP_024307973.1:p.Ser434Leu
XM_024452206.1:c.1163C>T XP_024307974.1:p.Ser388Leu