Canonical Allele Identifier: CA343377955

Gene: NDUFS2

Linked Data

• ClinVar Variation Id: 522715
• ClinVar RCV Id: RCV000625868
• dbSNP Id: rs1553249704
• MyVariant Identifiers: chr1:g.161176262G>A (hg19) ; chr1:g.161206472G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161206472G>A , CM000663.2:g.161206472G>A	GRCh38
NC_000001.10:g.161176262G>A , CM000663.1:g.161176262G>A	GRCh37
NC_000001.9:g.159442886G>A	NCBI36
NG_013352.1:g.12158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392179.5:c.268G>A	ENSP00000376018.4:p.Ala90Thr
ENST00000465923.6:n.40G>A
ENST00000467295.6:n.796G>A
ENST00000480762.6:n.182G>A
ENST00000493849.6:n.367G>A
ENST00000496553.6:n.1007G>A
ENST00000676535.1:n.571G>A
ENST00000676583.1:c.268G>A	ENSP00000503681.1:p.Ala90Thr
ENST00000676600.1:c.268G>A	ENSP00000503989.1:p.Ala90Thr
ENST00000676653.1:n.584G>A
ENST00000676726.1:n.367G>A
ENST00000676770.1:n.1134G>A
ENST00000676795.1:c.96-2721G>A	ENSP00000504650.1:n.96-2721G>A
ENST00000676871.1:n.367G>A
ENST00000676972.1:c.268G>A MANE Select	ENSP00000503117.1:p.Ala90Thr
ENST00000676991.1:n.988G>A
ENST00000677033.1:n.1076G>A
ENST00000677045.1:c.161G>A	ENSP00000504168.1:p.Ser54Asn
ENST00000677050.1:n.367G>A
ENST00000677063.1:c.161G>A	ENSP00000504572.1:p.Ser54Asn
ENST00000677081.1:c.268G>A	ENSP00000503728.1:p.Ala90Thr
ENST00000677089.1:n.182G>A
ENST00000677103.1:n.103-2721G>A
ENST00000677138.1:c.268G>A	ENSP00000504839.1:p.Ala90Thr
ENST00000677178.1:n.571G>A
ENST00000677231.1:c.268G>A	ENSP00000503378.1:p.Ala90Thr
ENST00000677336.1:n.182G>A
ENST00000677350.1:n.571G>A
ENST00000677358.1:n.182G>A
ENST00000677383.1:n.571G>A
ENST00000677453.1:c.268G>A	ENSP00000503604.1:p.Ala90Thr
ENST00000677457.1:c.268G>A	ENSP00000503294.1:p.Ala90Thr
ENST00000677471.1:n.182G>A
ENST00000677495.1:n.367G>A
ENST00000677547.1:c.268G>A	ENSP00000504269.1:p.Ala90Thr
ENST00000677550.1:c.268G>A	ENSP00000503353.1:p.Ala90Thr
ENST00000677577.1:n.367G>A
ENST00000677579.1:c.268G>A	ENSP00000504162.1:p.Ala90Thr
ENST00000677613.1:c.268G>A	ENSP00000504258.1:p.Ala90Thr
ENST00000677643.1:n.182G>A
ENST00000677653.1:c.268G>A	ENSP00000504542.1:p.Ala90Thr
ENST00000677657.1:n.367G>A
ENST00000677736.1:n.367G>A
ENST00000677745.1:n.182G>A
ENST00000677807.1:n.571G>A
ENST00000677809.1:n.571G>A
ENST00000677837.1:c.161G>A	ENSP00000503661.1:p.Ser54Asn
ENST00000677846.1:c.268G>A	ENSP00000504065.1:p.Ala90Thr
ENST00000677916.1:n.367G>A
ENST00000677925.1:n.571G>A
ENST00000677948.1:c.161G>A	ENSP00000503510.1:p.Ser54Asn
ENST00000678052.1:n.571G>A
ENST00000678068.1:n.1243G>A
ENST00000678130.1:n.979G>A
ENST00000678328.1:n.367G>A
ENST00000678356.1:n.688G>A
ENST00000678484.1:n.367G>A
ENST00000678492.1:n.571G>A
ENST00000678507.1:c.268G>A	ENSP00000504199.1:p.Ala90Thr
ENST00000678511.1:c.268G>A	ENSP00000504846.1:p.Ala90Thr
ENST00000678532.1:c.161G>A	ENSP00000504682.1:p.Ser54Asn
ENST00000678559.1:c.161G>A	ENSP00000504285.1:p.Ser54Asn
ENST00000678605.1:c.268G>A	ENSP00000503969.1:p.Ala90Thr
ENST00000678613.1:n.571G>A
ENST00000678648.1:n.182G>A
ENST00000678783.1:c.268G>A	ENSP00000504215.1:p.Ala90Thr
ENST00000678793.1:c.268G>A	ENSP00000503431.1:p.Ala90Thr
ENST00000678850.1:n.367G>A
ENST00000678880.1:c.161G>A	ENSP00000503015.1:p.Ser54Asn
ENST00000678911.1:c.268G>A	ENSP00000503946.1:p.Ala90Thr
ENST00000678966.1:n.571G>A
ENST00000678982.1:c.161G>A	ENSP00000504597.1:p.Ser54Asn
ENST00000679064.1:c.268G>A	ENSP00000502868.1:p.Ala90Thr
ENST00000679071.1:n.360G>A
ENST00000679142.1:c.245G>A	ENSP00000504800.1:n.245G>A
ENST00000679169.1:c.161G>A	ENSP00000504096.1:p.Ser54Asn
ENST00000679176.1:c.268G>A	ENSP00000504170.1:p.Ala90Thr
ENST00000679215.1:n.571G>A
ENST00000679218.1:c.319G>A	ENSP00000504577.1:p.Ala107Thr
ENST00000679239.1:c.268G>A	ENSP00000504555.1:p.Ala90Thr
ENST00000679282.1:c.268G>A	ENSP00000504533.1:p.Ala90Thr
ENST00000367993.7:c.268G>A	ENSP00000356972.3:p.Ala90Thr
ENST00000392179.4:c.268G>A	ENSP00000376018.4:p.Ala90Thr
ENST00000467295.5:n.356G>A
ENST00000473321.1:n.64G>A
ENST00000478866.5:n.278G>A
ENST00000479948.5:n.560G>A
ENST00000496133.5:n.576G>A
ENST00000496553.5:n.608G>A
NM_001166159.1:c.268G>A	NP_001159631.1:p.Ala90Thr
NM_004550.4:c.268G>A	NP_004541.1:p.Ala90Thr
XM_005245208.1:c.268G>A	XP_005245265.1:p.Ala90Thr
XM_005245209.1:c.-27G>A	XP_005245266.1:n.-27G>A
XM_005245209.2:c.-27G>A	XP_005245266.1:n.-27G>A
NM_001166159.2:c.268G>A	NP_001159631.1:p.Ala90Thr
NM_001377298.1:c.268G>A	NP_001364227.1:p.Ala90Thr
NM_001377299.1:c.268G>A MANE Select	NP_001364228.1:p.Ala90Thr
NM_001377300.1:c.268G>A	NP_001364229.1:p.Ala90Thr
NM_001377301.1:c.268G>A	NP_001364230.1:p.Ala90Thr
NM_001377302.1:c.268G>A	NP_001364231.1:p.Ala90Thr
NR_165188.1:n.287G>A
NM_004550.5:c.268G>A	NP_004541.1:p.Ala90Thr