Canonical Allele Identifier: CA325447

Gene: NDUFS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161210683T>C , CM000663.2:g.161210683T>C	GRCh38
NC_000001.10:g.161180473T>C , CM000663.1:g.161180473T>C	GRCh37
NC_000001.9:g.159447097T>C	NCBI36
NG_013352.1:g.16369T>C
NG_029043.1:g.387T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392179.5:c.959T>C	ENSP00000376018.4:p.Val320Ala
ENST00000465923.6:n.610T>C
ENST00000467295.6:n.1487T>C
ENST00000468828.6:n.786T>C
ENST00000480762.6:n.1189T>C
ENST00000483804.6:n.471T>C
ENST00000493849.6:n.1814T>C
ENST00000496553.6:n.1698T>C
ENST00000676535.1:n.1441T>C
ENST00000676583.1:c.*334T>C	ENSP00000503681.1:n.*334T>C
ENST00000676600.1:c.959T>C	ENSP00000503989.1:p.Val320Ala
ENST00000676653.1:n.1715T>C
ENST00000676726.1:n.1388T>C
ENST00000676770.1:n.1825T>C
ENST00000676795.1:c.*541T>C	ENSP00000504650.1:n.*541T>C
ENST00000676871.1:n.1498T>C
ENST00000676972.1:c.959T>C MANE Select	ENSP00000503117.1:p.Val320Ala
ENST00000676991.1:n.1679T>C
ENST00000677033.1:n.2028T>C
ENST00000677045.1:c.*630T>C	ENSP00000504168.1:n.*630T>C
ENST00000677050.1:n.1613T>C
ENST00000677063.1:c.*630T>C	ENSP00000504572.1:n.*630T>C
ENST00000677081.1:c.959T>C	ENSP00000503728.1:p.Val320Ala
ENST00000677089.1:n.873T>C
ENST00000677103.1:n.1424T>C
ENST00000677138.1:c.959T>C	ENSP00000504839.1:p.Val320Ala
ENST00000677178.1:n.1262T>C
ENST00000677231.1:c.881T>C	ENSP00000503378.1:p.Val294Ala
ENST00000677336.1:n.1313T>C
ENST00000677350.1:n.1757T>C
ENST00000677358.1:n.1052T>C
ENST00000677383.1:n.1578T>C
ENST00000677453.1:c.959T>C	ENSP00000503604.1:p.Val320Ala
ENST00000677457.1:c.959T>C	ENSP00000503294.1:p.Val320Ala
ENST00000677471.1:n.1313T>C
ENST00000677495.1:n.1319T>C
ENST00000677547.1:c.*33T>C	ENSP00000504269.1:n.*33T>C
ENST00000677550.1:c.959T>C	ENSP00000503353.1:p.Val320Ala
ENST00000677577.1:n.1814T>C
ENST00000677579.1:c.959T>C	ENSP00000504162.1:p.Val320Ala
ENST00000677613.1:c.959T>C	ENSP00000504258.1:p.Val320Ala
ENST00000677643.1:n.1368T>C
ENST00000677653.1:c.*334T>C	ENSP00000504542.1:n.*334T>C
ENST00000677657.1:n.1498T>C
ENST00000677736.1:n.1613T>C
ENST00000677745.1:n.873T>C
ENST00000677807.1:n.1578T>C
ENST00000677809.1:n.1757T>C
ENST00000677837.1:c.*630T>C	ENSP00000503661.1:n.*630T>C
ENST00000677846.1:c.959T>C	ENSP00000504065.1:p.Val320Ala
ENST00000677916.1:n.1498T>C
ENST00000677925.1:n.1578T>C
ENST00000677948.1:c.*644T>C	ENSP00000503510.1:n.*644T>C
ENST00000678052.1:n.1441T>C
ENST00000678068.1:n.2690T>C
ENST00000678130.1:n.1670T>C
ENST00000678328.1:n.1814T>C
ENST00000678356.1:n.2135T>C
ENST00000678484.1:n.1814T>C
ENST00000678492.1:n.1578T>C
ENST00000678507.1:c.959T>C	ENSP00000504199.1:p.Val320Ala
ENST00000678511.1:c.959T>C	ENSP00000504846.1:p.Val320Ala
ENST00000678532.1:c.*644T>C	ENSP00000504682.1:n.*644T>C
ENST00000678559.1:c.*753T>C	ENSP00000504285.1:n.*753T>C
ENST00000678605.1:c.959T>C	ENSP00000503969.1:p.Val320Ala
ENST00000678613.1:n.1578T>C
ENST00000678648.1:n.1629T>C
ENST00000678783.1:c.884T>C	ENSP00000504215.1:p.Val295Ala
ENST00000678793.1:c.959T>C	ENSP00000503431.1:p.Val320Ala
ENST00000678850.1:n.1319T>C
ENST00000678880.1:c.*630T>C	ENSP00000503015.1:n.*630T>C
ENST00000678911.1:c.881T>C	ENSP00000503946.1:p.Val294Ala
ENST00000678966.1:n.1377T>C
ENST00000678982.1:c.*630T>C	ENSP00000504597.1:n.*630T>C
ENST00000679064.1:c.959T>C	ENSP00000502868.1:p.Val320Ala
ENST00000679071.1:n.1491T>C
ENST00000679142.1:c.1059T>C	ENSP00000504800.1:n.1059T>C
ENST00000679169.1:c.*630T>C	ENSP00000504096.1:n.*630T>C
ENST00000679176.1:c.959T>C	ENSP00000504170.1:p.Val320Ala
ENST00000679215.1:n.1262T>C
ENST00000679218.1:c.1010T>C	ENSP00000504577.1:p.Val337Ala
ENST00000679239.1:c.*334T>C	ENSP00000504555.1:n.*334T>C
ENST00000679282.1:c.959T>C	ENSP00000504533.1:p.Val320Ala
ENST00000367993.7:c.959T>C	ENSP00000356972.3:p.Val320Ala
ENST00000392179.4:c.959T>C	ENSP00000376018.4:p.Val320Ala
ENST00000465923.5:n.324T>C
ENST00000467295.5:n.1047T>C
ENST00000480762.5:n.761T>C
ENST00000483804.5:n.520T>C
ENST00000493849.5:n.9T>C
NM_001166159.1:c.959T>C	NP_001159631.1:p.Val320Ala
NM_004550.4:c.959T>C	NP_004541.1:p.Val320Ala
XM_005245208.1:c.959T>C	XP_005245265.1:p.Val320Ala
XM_005245209.1:c.665T>C	XP_005245266.1:p.Val222Ala
XM_005245209.2:c.665T>C	XP_005245266.1:p.Val222Ala
NM_001166159.2:c.959T>C	NP_001159631.1:p.Val320Ala
NM_001377298.1:c.959T>C	NP_001364227.1:p.Val320Ala
NM_001377299.1:c.959T>C MANE Select	NP_001364228.1:p.Val320Ala
NM_001377300.1:c.959T>C	NP_001364229.1:p.Val320Ala
NM_001377301.1:c.959T>C	NP_001364230.1:p.Val320Ala
NM_001377302.1:c.959T>C	NP_001364231.1:p.Val320Ala
NR_165188.1:n.978T>C
NM_004550.5:c.959T>C	NP_004541.1:p.Val320Ala