All transcript variants in gene ALAS2

Information The variants shown are described using the NM_000032.4 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. _1 c.-91_-44del r.(?) p.(=) - likely pathogenic g.55057407_55057454del g.55030974_55031021del - - ALAS2_000009 - PubMed: Ducamp 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
-?/. _1 c.-15-1790G>A r.(=) p.(=) - likely benign g.55054238C>T g.55027805C>T NM_001037968.3:c.3G>A (p.?) - ALAS2_000015 not present in maternal uncle or grandfather PubMed: Bosch 2016, Journal: Bosch 2016 - - Germline - - - 0 - Danielle Bosch
-?/. - c.-15-1790G>A r.(=) p.(=) - likely benign g.55054238C>T g.55027805C>T ALAS2(NM_001037968.3):c.3G>A (p.M1?, p.(Met1?)) - ALAS2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-15-1790G>A r.(=) p.(=) - benign g.55054238C>T g.55027805C>T ALAS2(NM_001037968.3):c.3G>A (p.M1?, p.(Met1?)) - ALAS2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-15-1790G>A r.(=) p.(=) - benign g.55054238C>T g.55027805C>T ALAS2(NM_001037968.3):c.3G>A (p.M1?, p.(Met1?)) - ALAS2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-15-1786G>A r.(=) p.(=) - likely benign g.55054234C>T g.55027801C>T ALAS2(NM_001037968.3):c.7G>A (p.G3R) - ALAS2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.121C>G r.(?) p.(Leu41Val) - likely benign g.55052313G>C - ALAS2(NM_001037968.3):c.193C>G (p.L65V) - ALAS2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.190T>C r.(?) p.(Ser64Pro) - likely benign g.55051265A>G g.55024832A>G ALAS2(NM_000032.5):c.190T>C (p.S64P) - ALAS2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.220C>T r.(?) p.(Leu74=) - likely benign g.55051235G>A g.55024802G>A ALAS2(NM_000032.5):c.220C>T (p.L74=) - ALAS2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.231C>A r.(?) p.(Leu77=) - likely benign g.55051224G>T g.55024791G>T ALAS2(NM_000032.4):c.231C>A (p.(=)) - ALAS2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.431G>A r.(?) p.(Ser144Asn) - likely benign g.55047692C>T - ALAS2(NM_001037968.3):c.392G>A (p.S131N) - ALAS2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.653G>A r.(?) p.(Arg218His) - likely benign g.55046923C>T g.55020490C>T ALAS2(NM_000032.5):c.653G>A (p.R218H) - ALAS2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 6 c.653G>A r.(?) p.(Arg218His) - pathogenic g.55046923C>T g.55020490C>T - - ALAS2_000002 - PubMed: Ducamp 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.653G>A r.(?) p.(Arg218His) - VUS g.55046923C>T g.55020490C>T ALAS2(NM_000032.5):c.653G>A (p.R218H) - ALAS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 6 c.724G>A r.(?) p.(Glu242Lys) - VUS g.55046852C>T g.55020419C>T - - ALAS2_000003 - PubMed: Ducamp 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
+/. 6 c.787G>A r.(?) p.(Asp263Asn) - pathogenic g.55046789C>T g.55020356C>T - - ALAS2_000004 - PubMed: Ducamp 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
-?/. - c.828C>T r.(?) p.(Cys276=) - likely benign g.55044094G>A g.55017661G>A ALAS2(NM_000032.5):c.828C>T (p.C276=) - ALAS2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.886G>A r.(?) p.(Gly296Arg) - VUS g.55044036C>T g.55017603C>T ALAS2(NM_000032.5):c.886G>A (p.G296R) - ALAS2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 8 c.1016C>T r.(?) p.(Pro339Leu) - pathogenic g.55042163G>A g.55015730G>A - - ALAS2_000005 - PubMed: Ducamp 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
-?/. - c.1045C>A r.(?) p.(Gln349Lys) - likely benign g.55042134G>T g.55015701G>T ALAS2(NM_000032.5):c.1045C>A (p.Q349K) - ALAS2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 8 c.1123C>T r.(?) p.(Arg375Cys) - pathogenic g.55042056G>A g.55015623G>A - - ALAS2_000006 - PubMed: Ducamp 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
+?/. - c.1136T>C r.(?) p.(Met379Thr) - likely pathogenic g.55042043A>G g.55015610A>G - - ALAS2_000034 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs863223903 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-?/. 8i c.1169-157C>T r.(=) p.(=) - likely benign g.55041605G>A g.55015172G>A - - ALAS2_000014 - - - - Germline - - - 0 - Yu Sun
-?/. 8i c.1169-157C>T r.(=) p.(=) - likely benign g.55041605G>A g.55015172G>A - - ALAS2_000014 - - - - Germline - - - 0 - Yu Sun
?/. - c.1187T>C r.(?) p.(Val396Ala) - VUS g.55041430A>G g.55014997A>G - - ALAS2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 9 c.1231C>T r.(?) p.(Arg411Cys) - pathogenic g.55041386G>A g.55014953G>A - - ALAS2_000007 - PubMed: Ducamp 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
+/. 9 c.1232G>A r.(?) p.(Arg411His) - pathogenic g.55041385C>T g.55014952C>T - - ALAS2_000008 - PubMed: Ducamp 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
+/. 9 c.1232G>A r.(?) p.(Arg411His) - pathogenic g.55041385C>T g.55014952C>T - - ALAS2_000008 - PubMed: Ducamp 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
-?/. - c.1233C>G r.(?) p.(Arg411=) - likely benign g.55041384G>C g.55014951G>C ALAS2(NM_000032.5):c.1233C>G (p.R411=) - ALAS2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 9 c.1354C>G r.(?) p.(Arg452Gly) - likely pathogenic g.55041263G>C g.55014830G>C - - ALAS2_000010 - PubMed: Ducamp 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
+/. 9 c.1354C>T r.(?) p.(Arg452Cys) - pathogenic g.55041263G>A g.55014830G>A - - ALAS2_000011 - PubMed: Ducamp 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
+/. 9 c.1354C>T r.(?) p.(Arg452Cys) - pathogenic g.55041263G>A g.55014830G>A - - ALAS2_000011 - PubMed: Ducamp 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
+/. - c.1355G>A r.(?) p.(Arg452His) - pathogenic g.55041262C>T g.55014829C>T - - ALAS2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1355G>T r.(?) p.(Arg452Leu) - likely pathogenic g.55041262C>A g.55014829C>A - - ALAS2_000023 - - - - Germline/De novo (untested) - - - 0 - Gemeinschaftspraxis für Humangenetik Dresden
?/. - c.1447G>A r.(?) p.(Ala483Thr) - VUS g.55040072C>T g.55013639C>T - - ALAS2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 9 c.1559C>T r.(?) p.(Pro520Leu) - pathogenic g.55039960G>A g.55013527G>A - - ALAS2_000012 - PubMed: Ducamp 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
-/. - c.1559C>T r.(?) p.(Pro520Leu) - benign g.55039960G>A g.55013527G>A ALAS2(NM_000032.5):c.1559C>T (p.P520L) - ALAS2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1559C>T r.(?) p.(Pro520Leu) - VUS g.55039960G>A g.55013527G>A - - ALAS2_000012 conflicting interpretations of pathogenicity; 1 heterozygous; Clinindb (India) Faruq 2020, submtted - rs201062903 Germline - 1/2791 individuals - 0 - Mohammed Faruq
?/. - c.1559C>T r.(?) p.(Pro520Leu) - VUS g.55039960G>A g.55013527G>A - - ALAS2_000012 conflicting interpretations of pathogenicity; 3 homozygous; Clinindb (India) Faruq 2020, submtted - rs201062903 Germline - 3/2791 individuals - 0 - Mohammed Faruq
-?/. - c.1567C>T r.(?) p.(His523Tyr) - likely benign g.55039952G>A - ALAS2(NM_001037968.3):c.1528C>T (p.H510Y) - ALAS2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1676G>A r.(?) p.(Arg559His) - likely benign g.55035701C>T g.55009268C>T ALAS2(NM_000032.5):c.1676G>A (p.R559H) - ALAS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1684G>A r.(?) p.(Val562Ile) - likely benign g.55035693C>T - ALAS2(NM_001037968.3):c.1645G>A (p.V549I) - ALAS2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 11 c.1715G>A r.(?) p.(Arg572His) - likely pathogenic g.55035662C>T g.55009229C>T - - ALAS2_000013 - PubMed: Ducamp 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
+?/. 11 c.1715G>A r.(?) p.(Arg572His) - likely pathogenic g.55035662C>T g.55009229C>T - - ALAS2_000013 - PubMed: Ducamp 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.1718C>T r.(?) p.(Ser573Phe) - VUS g.55035659G>A g.55009226G>A ALAS2(NM_000032.4):c.1718C>T (p.(Ser573Phe)), ALAS2(NM_000032.5):c.1718C>T (p.S573F) - ALAS2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1718C>T r.(?) p.(Ser573Phe) - likely benign g.55035659G>A g.55009226G>A ALAS2(NM_000032.4):c.1718C>T (p.(Ser573Phe)), ALAS2(NM_000032.5):c.1718C>T (p.S573F) - ALAS2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1718C>T r.(?) p.(Ser573Phe) - likely benign g.55035659G>A g.55009226G>A - - ALAS2_000016 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs201799139 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.*1497G>A r.(=) p.(=) - VUS g.55034116C>T g.55007683C>T APEX2(NM_014481.3):c.*248C>T (p.(=)) - APEX2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.*1894C>T r.(=) p.(=) - likely benign g.55033719G>A g.55007286G>A APEX2(NM_014481.3):c.1408G>A (p.G470R) - APEX2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*1992T>A r.(=) p.(=) - likely benign g.55033621A>T g.55007188A>T APEX2(NM_001271748.1):c.797A>T (p.(Lys266Met)) - ALAS2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*2108C>A r.(=) p.(=) - VUS g.55033505G>T - APEX2(NM_014481.3):c.1194G>T (p.Q398H) - ALAS2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*2280C>T r.(=) p.(=) - VUS g.55033333G>A g.55006900G>A APEX2(NM_014481.3):c.1022G>A (p.(Arg341His)) - APEX2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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