LDH info

Canonical Allele Identifier: CA300913
Gene: ANK2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 190571
dbSNP Id: rs142534126

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.113345961C>T , CM000666.2:g.113345961C>T GRCh38
NC_000004.11:g.114267117C>T , CM000666.1:g.114267117C>T GRCh37
NC_000004.10:g.114486566C>T NCBI36
NG_009006.2:g.532879C>T , LRG_327:g.532879C>T

Transcript Alleles

HGVS Amino-acid change
NM_001127493.1:c.4283C>T , LRG_327t2:c.4283C>T NP_001120965.1:p.Thr1428Met
NM_001148.4:c.4310C>T , LRG_327t1:c.4310C>T NP_001139.3:p.Thr1437Met
NM_020977.3:c.4310C>T VV NP_066187.2:p.Thr1437Met
XM_005262942.3:c.4343C>T XP_005262999.1:p.Thr1448Met
XM_005262945.1:c.4211C>T XP_005263002.1:p.Thr1404Met
XM_005262948.3:c.4307C>T XP_005263005.1:p.Thr1436Met
XM_006714188.2:c.4397C>T XP_006714251.1:p.Thr1466Met
XM_006714189.2:c.4361C>T XP_006714252.1:p.Thr1454Met
XM_006714190.2:c.4397C>T XP_006714253.1:p.Thr1466Met
XM_006714191.2:c.4397C>T XP_006714254.1:p.Thr1466Met
XM_006714192.2:c.4361C>T XP_006714255.1:p.Thr1454Met
XM_006714193.2:c.4397C>T XP_006714256.1:p.Thr1466Met
XM_006714194.2:c.4337C>T XP_006714257.1:p.Thr1446Met
XM_011531891.1:c.4382C>T XP_011530193.1:p.Thr1461Met
NM_001127493.2:c.4283C>T VV NP_001120965.1:p.Thr1428Met
NM_001148.5:c.4310C>T VV NP_001139.3:p.Thr1437Met
NM_001354225.1:c.4322C>T VV NP_001341154.1:p.Thr1441Met
NM_001354228.1:c.4211C>T VV NP_001341157.1:p.Thr1404Met
NM_001354230.1:c.4289C>T VV NP_001341159.1:p.Thr1430Met
NM_001354231.1:c.4352C>T VV NP_001341160.1:p.Thr1451Met
NM_001354232.1:c.4346C>T VV NP_001341161.1:p.Thr1449Met
NM_001354235.1:c.4307C>T VV NP_001341164.1:p.Thr1436Met
NM_001354236.1:c.4208C>T VV NP_001341165.1:p.Thr1403Met
NM_001354237.1:c.4388C>T VV NP_001341166.1:p.Thr1463Met
NM_001354239.1:c.4280C>T VV NP_001341168.1:p.Thr1427Met
NM_001354240.1:c.4355C>T VV NP_001341169.1:p.Thr1452Met
NM_001354241.1:c.4355C>T VV NP_001341170.1:p.Thr1452Met
NM_001354242.1:c.4352C>T VV NP_001341171.1:p.Thr1451Met
NM_001354243.1:c.4247C>T VV NP_001341172.1:p.Thr1416Met
NM_001354244.1:c.4244C>T VV NP_001341173.1:p.Thr1415Met
NM_001354245.1:c.4148C>T VV NP_001341174.1:p.Thr1383Met
NM_001354246.1:c.4307C>T VV NP_001341175.1:p.Thr1436Met
NM_001354249.1:c.4124C>T VV NP_001341178.1:p.Thr1375Met
NM_001354252.1:c.4280C>T VV NP_001341181.1:p.Thr1427Met
NM_001354253.1:c.4085C>T VV NP_001341182.1:p.Thr1362Met
NM_001354254.1:c.4259C>T VV NP_001341183.1:p.Thr1420Met
NM_001354255.1:c.4247C>T VV NP_001341184.1:p.Thr1416Met
NM_001354256.1:c.4244C>T VV NP_001341185.1:p.Thr1415Met
NM_001354257.1:c.4049C>T VV NP_001341186.1:p.Thr1350Met
NM_001354258.1:c.4211C>T VV NP_001341187.1:p.Thr1404Met
NM_001354260.1:c.4025C>T VV NP_001341189.1:p.Thr1342Met
NM_001354261.1:c.4169C>T VV NP_001341190.1:p.Thr1390Met
NM_001354262.1:c.4148C>T VV NP_001341191.1:p.Thr1383Met
NM_001354264.1:c.4145C>T VV NP_001341193.1:p.Thr1382Met
NM_001354265.1:c.4307C>T VV NP_001341194.1:p.Thr1436Met
NM_001354266.1:c.4124C>T VV NP_001341195.1:p.Thr1375Met
NM_001354267.1:c.4124C>T VV NP_001341196.1:p.Thr1375Met
NM_001354268.1:c.4112C>T VV NP_001341197.1:p.Thr1371Met
NM_001354269.1:c.4097C>T VV NP_001341198.1:p.Thr1366Met
NM_001354270.1:c.4085C>T VV NP_001341199.1:p.Thr1362Met
NM_001354271.1:c.4025C>T VV NP_001341200.1:p.Thr1342Met
NM_001354272.1:c.4181C>T VV NP_001341201.1:p.Thr1394Met
NM_001354273.1:c.4010C>T VV NP_001341202.1:p.Thr1337Met
NM_001354274.1:c.4109C>T VV NP_001341203.1:p.Thr1370Met
NM_001354275.1:c.4148C>T VV NP_001341204.1:p.Thr1383Met
NM_001354276.1:c.4124C>T VV NP_001341205.1:p.Thr1375Met
NM_001354277.1:c.3926C>T VV NP_001341206.1:p.Thr1309Met
NM_001354278.1:c.1838C>T VV NP_001341207.1:p.Thr613Met
NM_001354279.1:c.1874C>T VV NP_001341208.1:p.Thr625Met
NM_001354280.1:c.1859C>T VV NP_001341209.1:p.Thr620Met
NM_001354281.1:c.1838C>T VV NP_001341210.1:p.Thr613Met
NM_001354282.1:c.1874C>T VV NP_001341211.1:p.Thr625Met
NM_020977.4:c.4310C>T VV NP_066187.2:p.Thr1437Met
XM_005262945.3:c.4211C>T XP_005263002.1:p.Thr1404Met
XM_017008067.1:c.4451C>T XP_016863556.1:p.Thr1484Met
XM_017008069.1:c.4427C>T XP_016863558.1:p.Thr1476Met
XM_017008071.2:c.4337C>T XP_016863560.1:p.Thr1446Met
XM_017008072.2:c.4313C>T XP_016863561.1:p.Thr1438Met
XM_017008073.2:c.4310C>T XP_016863562.1:p.Thr1437Met
XM_017008074.2:c.4283C>T XP_016863563.1:p.Thr1428Met
XM_017008075.2:c.4247C>T XP_016863564.1:p.Thr1416Met
XM_017008076.2:c.4310C>T XP_016863565.1:p.Thr1437Met
XM_017008077.2:c.4124C>T XP_016863566.1:p.Thr1375Met
XM_017008078.2:c.4310C>T XP_016863567.1:p.Thr1437Met
XM_017008080.2:c.4160C>T XP_016863569.1:p.Thr1387Met
XM_024454016.1:c.4346C>T XP_024309784.1:p.Thr1449Met
XM_024454017.1:c.4346C>T XP_024309785.1:p.Thr1449Met
XM_024454018.1:c.4211C>T XP_024309786.1:p.Thr1404Met
XM_024454019.1:c.4289C>T XP_024309787.1:p.Thr1430Met
XM_024454020.1:c.4211C>T XP_024309788.1:p.Thr1404Met
XM_024454021.1:c.4208C>T XP_024309789.1:p.Thr1403Met
XM_024454022.1:c.4148C>T XP_024309790.1:p.Thr1383Met
XM_024454023.1:c.4010C>T XP_024309791.1:p.Thr1337Met
NM_001148.6:c.4310C>T VV MANE Preferred NP_001139.3:p.Thr1437Met
ENST00000264366.10:n.4211C>T ENSP00000264366.6:p.Thr1404Met
ENST00000357077.8:c.4310C>T ENSP00000349588.4:p.Thr1437Met
ENST00000394537.7:c.4310C>T ENSP00000378044.3:p.Thr1437Met
ENST00000503423.5:c.4049C>T ENSP00000421011.1:p.Thr1350Met
ENST00000504415.5:n.267C>T
ENST00000504454.5:c.4355C>T ENSP00000424722.1:p.Thr1452Met
ENST00000506722.5:c.4283C>T ENSP00000421067.1:p.Thr1428Met
ENST00000509550.5:c.1838C>T ENSP00000426944.1:p.Thr613Met
ENST00000510275.6:c.266C>T ENSP00000421023.2:p.Thr89Met
ENST00000514960.5:n.1347C>T