Canonical Allele Identifier: CA1208654

Gene: NDUFS2

Linked Data

• ClinVar Variation Id: 293276
• ClinVar RCV Id: RCV000343322 ; RCV000480470 ; RCV002059342
• dbSNP Id: rs776704187
• ExAC: 1:161179733 C / CCCGG
• gnomAD v2: 1-161179733-C-CCCGG
• gnomAD v3: 1-161209943-C-CCCGG
• gnomAD v4: 1-161209943-C-CCCGG
• MyVariant Identifiers: chr1:g.161179735_161179738dupCGGC (hg19) ; chr1:g.161179733_161179734insCCGG (hg19) ; chr1:g.161209945_161209948dupCGGC (hg38) ; chr1:g.161209943_161209944insCCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161209945_161209948dup , CM000663.2:g.161209945_161209948dup	GRCh38
NC_000001.10:g.161179735_161179738dup , CM000663.1:g.161179735_161179738dup	GRCh37
NC_000001.9:g.159446359_159446362dup	NCBI36
NG_013352.1:g.15631_15634dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392179.5:c.702+14_702+17dup	ENSP00000376018.4:n.702+14_702+17dup
ENST00000465923.6:n.353+14_353+17dup
ENST00000467295.6:n.1230+14_1230+17dup
ENST00000468828.6:n.529+14_529+17dup
ENST00000480762.6:n.616+14_616+17dup
ENST00000483804.6:n.214+14_214+17dup
ENST00000493849.6:n.1076_1079dup
ENST00000496553.6:n.1441+14_1441+17dup
ENST00000676535.1:n.1019_1022dup
ENST00000676583.1:c.*77+14_*77+17dup	ENSP00000503681.1:n.*77+14_*77+17dup
ENST00000676600.1:c.702+14_702+17dup	ENSP00000503989.1:n.702+14_702+17dup
ENST00000676653.1:n.1293_1296dup
ENST00000676726.1:n.815+14_815+17dup
ENST00000676770.1:n.1568+14_1568+17dup
ENST00000676795.1:c.*284+14_*284+17dup	ENSP00000504650.1:n.*284+14_*284+17dup
ENST00000676871.1:n.1076_1079dup
ENST00000676972.1:c.702+14_702+17dup MANE Select	ENSP00000503117.1:n.702+14_702+17dup
ENST00000676991.1:n.1422+14_1422+17dup
ENST00000677033.1:n.1771+14_1771+17dup
ENST00000677045.1:c.*373+14_*373+17dup	ENSP00000504168.1:n.*373+14_*373+17dup
ENST00000677050.1:n.1076_1079dup
ENST00000677063.1:c.*373+14_*373+17dup	ENSP00000504572.1:n.*373+14_*373+17dup
ENST00000677081.1:c.702+14_702+17dup	ENSP00000503728.1:n.702+14_702+17dup
ENST00000677089.1:n.616+14_616+17dup
ENST00000677103.1:n.686_689dup
ENST00000677138.1:c.702+14_702+17dup	ENSP00000504839.1:n.702+14_702+17dup
ENST00000677178.1:n.1005+14_1005+17dup
ENST00000677231.1:c.702+14_702+17dup	ENSP00000503378.1:n.702+14_702+17dup
ENST00000677336.1:n.891_894dup
ENST00000677350.1:n.1019_1022dup
ENST00000677358.1:n.630_633dup
ENST00000677383.1:n.1005+14_1005+17dup
ENST00000677453.1:c.702+14_702+17dup	ENSP00000503604.1:n.702+14_702+17dup
ENST00000677457.1:c.702+14_702+17dup	ENSP00000503294.1:n.702+14_702+17dup
ENST00000677471.1:n.891_894dup
ENST00000677495.1:n.1062+14_1062+17dup
ENST00000677547.1:c.702+14_702+17dup	ENSP00000504269.1:n.702+14_702+17dup
ENST00000677550.1:c.702+14_702+17dup	ENSP00000503353.1:n.702+14_702+17dup
ENST00000677577.1:n.1076_1079dup
ENST00000677579.1:c.702+14_702+17dup	ENSP00000504162.1:n.702+14_702+17dup
ENST00000677613.1:c.702+14_702+17dup	ENSP00000504258.1:n.702+14_702+17dup
ENST00000677643.1:n.630_633dup
ENST00000677653.1:c.*77+14_*77+17dup	ENSP00000504542.1:n.*77+14_*77+17dup
ENST00000677657.1:n.1076_1079dup
ENST00000677736.1:n.1076_1079dup
ENST00000677745.1:n.616+14_616+17dup
ENST00000677807.1:n.1005+14_1005+17dup
ENST00000677809.1:n.1019_1022dup
ENST00000677837.1:c.*373+14_*373+17dup	ENSP00000503661.1:n.*373+14_*373+17dup
ENST00000677846.1:c.702+14_702+17dup	ENSP00000504065.1:n.702+14_702+17dup
ENST00000677916.1:n.1076_1079dup
ENST00000677925.1:n.1005+14_1005+17dup
ENST00000677948.1:c.*387+14_*387+17dup	ENSP00000503510.1:n.*387+14_*387+17dup
ENST00000678052.1:n.1019_1022dup
ENST00000678068.1:n.1952_1955dup
ENST00000678130.1:n.1413+14_1413+17dup
ENST00000678328.1:n.1076_1079dup
ENST00000678356.1:n.1397_1400dup
ENST00000678484.1:n.1076_1079dup
ENST00000678492.1:n.1005+14_1005+17dup
ENST00000678507.1:c.702+14_702+17dup	ENSP00000504199.1:n.702+14_702+17dup
ENST00000678511.1:c.702+14_702+17dup	ENSP00000504846.1:n.702+14_702+17dup
ENST00000678532.1:c.*387+14_*387+17dup	ENSP00000504682.1:n.*387+14_*387+17dup
ENST00000678559.1:c.*496+14_*496+17dup	ENSP00000504285.1:n.*496+14_*496+17dup
ENST00000678605.1:c.702+14_702+17dup	ENSP00000503969.1:n.702+14_702+17dup
ENST00000678613.1:n.1005+14_1005+17dup
ENST00000678648.1:n.891_894dup
ENST00000678783.1:c.628-166_628-163dup	ENSP00000504215.1:n.628-166_628-163dup
ENST00000678793.1:c.702+14_702+17dup	ENSP00000503431.1:n.702+14_702+17dup
ENST00000678850.1:n.1062+14_1062+17dup
ENST00000678880.1:c.*373+14_*373+17dup	ENSP00000503015.1:n.*373+14_*373+17dup
ENST00000678911.1:c.702+14_702+17dup	ENSP00000503946.1:n.702+14_702+17dup
ENST00000678966.1:n.1005+14_1005+17dup
ENST00000678982.1:c.*373+14_*373+17dup	ENSP00000504597.1:n.*373+14_*373+17dup
ENST00000679064.1:c.702+14_702+17dup	ENSP00000502868.1:n.702+14_702+17dup
ENST00000679071.1:n.1069_1072dup
ENST00000679142.1:c.802+14_802+17dup	ENSP00000504800.1:n.802+14_802+17dup
ENST00000679169.1:c.*373+14_*373+17dup	ENSP00000504096.1:n.*373+14_*373+17dup
ENST00000679176.1:c.702+14_702+17dup	ENSP00000504170.1:n.702+14_702+17dup
ENST00000679215.1:n.1005+14_1005+17dup
ENST00000679218.1:c.753+14_753+17dup	ENSP00000504577.1:n.753+14_753+17dup
ENST00000679239.1:c.*77+14_*77+17dup	ENSP00000504555.1:n.*77+14_*77+17dup
ENST00000679282.1:c.702+14_702+17dup	ENSP00000504533.1:n.702+14_702+17dup
ENST00000367993.7:c.702+14_702+17dup	ENSP00000356972.3:n.702+14_702+17dup
ENST00000392179.4:c.702+14_702+17dup	ENSP00000376018.4:n.702+14_702+17dup
ENST00000465923.5:n.67+14_67+17dup
ENST00000467295.5:n.790+14_790+17dup
ENST00000478866.5:n.712+14_712+17dup
ENST00000480762.5:n.188+14_188+17dup
ENST00000483804.5:n.263+14_263+17dup
NM_001166159.1:c.702+14_702+17dup	NP_001159631.1:n.702+14_702+17dup
NM_004550.4:c.702+14_702+17dup	NP_004541.1:n.702+14_702+17dup
XM_005245208.1:c.702+14_702+17dup	XP_005245265.1:n.702+14_702+17dup
XM_005245209.1:c.408+14_408+17dup	XP_005245266.1:n.408+14_408+17dup
XM_005245209.2:c.408+14_408+17dup	XP_005245266.1:n.408+14_408+17dup
NM_001166159.2:c.702+14_702+17dup	NP_001159631.1:n.702+14_702+17dup
NM_001377298.1:c.702+14_702+17dup	NP_001364227.1:n.702+14_702+17dup
NM_001377299.1:c.702+14_702+17dup MANE Select	NP_001364228.1:n.702+14_702+17dup
NM_001377300.1:c.702+14_702+17dup	NP_001364229.1:n.702+14_702+17dup
NM_001377301.1:c.702+14_702+17dup	NP_001364230.1:n.702+14_702+17dup
NM_001377302.1:c.702+14_702+17dup	NP_001364231.1:n.702+14_702+17dup
NR_165188.1:n.721+14_721+17dup
NM_004550.5:c.702+14_702+17dup	NP_004541.1:n.702+14_702+17dup