Canonical Allele Identifier: CA14940928
Community Standard Title: NM_015374.3(SUN2):c.2041-216T>A

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38736596A>T , CM000684.2:g.38736596A>T GRCh38
NC_000022.10:g.39132601A>T , CM000684.1:g.39132601A>T GRCh37
NC_000022.9:g.37462547A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015374.3:c.2041-216T>A (SUN2) MANE Select NP_056189.1:n.2041-216T>A
ENST00000689035.1:c.2041-216T>A (SUN2) MANE Select ENSP00000508608.1:n.2041-216T>A
NM_001199579.1:c.2104-216T>A (SUN2) NP_001186508.1:n.2104-216T>A
NM_001199579.2:c.2104-216T>A (SUN2) NP_001186508.1:n.2104-216T>A
NM_001199580.1:c.2041-216T>A (SUN2) NP_001186509.1:n.2041-216T>A
NM_001199580.2:c.2041-216T>A (SUN2) NP_001186509.1:n.2041-216T>A
NM_001394427.1:c.2134-216T>A (SUN2) NP_001381356.1:n.2134-216T>A
NM_001394428.1:c.2104-216T>A (SUN2) NP_001381357.1:n.2104-216T>A
NM_001394429.1:c.2086-216T>A (SUN2) NP_001381358.1:n.2086-216T>A
NM_001394430.1:c.2086-216T>A (SUN2) NP_001381359.1:n.2086-216T>A
NM_001394432.1:c.2041-216T>A (SUN2) NP_001381361.1:n.2041-216T>A
NM_001394433.1:c.2041-216T>A (SUN2) NP_001381362.1:n.2041-216T>A
NM_001394434.1:c.2041-216T>A (SUN2) NP_001381363.1:n.2041-216T>A
NM_001394435.1:c.2041-216T>A (SUN2) NP_001381364.1:n.2041-216T>A
NM_001394436.1:c.2038-216T>A (SUN2) NP_001381365.1:n.2038-216T>A
NM_001394437.1:c.2038-216T>A (SUN2) NP_001381366.1:n.2038-216T>A
NM_001394438.1:c.1951-216T>A (SUN2) NP_001381367.1:n.1951-216T>A
NM_001394439.1:c.1903-216T>A (SUN2) NP_001381368.1:n.1903-216T>A
NM_001394440.1:c.1903-216T>A (SUN2) NP_001381369.1:n.1903-216T>A
NM_001394441.1:c.1903-216T>A (SUN2) NP_001381370.1:n.1903-216T>A
NM_001394442.1:c.1642-216T>A (SUN2) NP_001381371.1:n.1642-216T>A
NM_001394443.1:c.1549-216T>A (SUN2) NP_001381372.1:n.1549-216T>A
NM_001394444.1:c.1465-216T>A (SUN2) NP_001381373.1:n.1465-216T>A
NM_001394445.1:c.1465-216T>A (SUN2) NP_001381374.1:n.1465-216T>A
NM_015374.2:c.2041-216T>A (SUN2) NP_056189.1:n.2041-216T>A
ENST00000405018.5:c.2104-216T>A (SUN2) ENSP00000385616.1:n.2104-216T>A
ENST00000405510.5:c.2041-216T>A (SUN2) ENSP00000385740.1:n.2041-216T>A
ENST00000406622.5:c.2041-216T>A (SUN2) ENSP00000383992.1:n.2041-216T>A
ENST00000456894.6:c.1903-216T>A (SUN2) ENSP00000415588.3:n.1903-216T>A
ENST00000458073.5:c.1001+340A>T (GTPBP1) ENSP00000388147.1:n.1001+340A>T
ENST00000489527.1:c.74-1355A>T (GTPBP1)
ENST00000690927.1:c.1807-216T>A (SUN2) ENSP00000508791.1:n.1807-216T>A
XM_011530104.1:c.1903-216T>A (SUN2) XP_011528406.1:n.1903-216T>A
XM_011530104.2:c.1903-216T>A (SUN2) XP_011528406.1:n.1903-216T>A
XM_011530105.1:c.2008-216T>A (SUN2) XP_011528407.1:n.2008-216T>A
XM_011530105.2:c.2008-216T>A (SUN2) XP_011528407.1:n.2008-216T>A
XM_011530537.1:c.2064-1355A>T (GTPBP1) XP_011528839.1:n.2064-1355A>T
XM_011530537.2:c.2064-1355A>T (GTPBP1) XP_011528839.1:n.2064-1355A>T
XM_011530538.1:c.2040-1355A>T (GTPBP1) XP_011528840.1:n.2040-1355A>T
XM_011530541.1:c.1914-1355A>T (GTPBP1) XP_011528843.1:n.1914-1355A>T
XM_011530542.1:c.1728-1355A>T (GTPBP1) XP_011528844.1:n.1728-1355A>T
XM_011530543.1:c.1704-1355A>T (GTPBP1) XP_011528845.1:n.1704-1355A>T
XM_024452203.1:c.2320-216T>A (SUN2) XP_024307971.1:n.2320-216T>A
XM_024452204.1:c.2146-216T>A (SUN2) XP_024307972.1:n.2146-216T>A
XM_024452205.1:c.2041-216T>A (SUN2) XP_024307973.1:n.2041-216T>A
XM_024452206.1:c.1903-216T>A (SUN2) XP_024307974.1:n.1903-216T>A