Canonical Allele Identifier: CA1953974186
Gene: CYP2R1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14879238_14879239delinsTG , CM000673.2:g.14879238_14879239delinsTG GRCh38
NC_000011.9:g.14900784_14900785delinsTG , CM000673.1:g.14900784_14900785delinsTG GRCh37
NC_000011.8:g.14857360_14857361delinsTG NCBI36
NG_007936.1:g.17967_17968delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000334636.10:c.1205_1206delinsCA MANE Select ENSP00000334592.5:p.Thr402=
ENST00000334636.9:c.1205_1206delinsCA ENSP00000334592.5:p.Thr402=
ENST00000525015.1:c.67-32_67-31delinsCA
ENST00000530609.5:c.*801_*802delinsCA ENSP00000466060.1:n.*801_*802delinsCA
ENST00000532378.5:c.506_507delinsCA ENSP00000435484.1:p.Thr169=
ENST00000532805.1:c.*353-40_*353-39delinsCA ENSP00000465097.1:n.*353-40_*353-39delinsCA
ENST00000534686.5:c.*597-32_*597-31delinsCA ENSP00000432087.2:n.*597-32_*597-31delinsCA
NM_024514.4:c.1205_1206delinsCA NP_078790.2:p.Thr402=
XM_005252788.1:c.1061_1062delinsCA XP_005252845.1:p.Thr354=
XM_005252789.2:c.1043_1044delinsCA XP_005252846.1:p.Thr348=
XM_005252791.3:c.860_861delinsCA XP_005252848.1:p.Thr287=
XM_006718142.2:c.1160_1161delinsCA XP_006718205.1:p.Thr387=
XM_011519894.1:c.860_861delinsCA XP_011518196.1:p.Thr287=
XM_011519895.1:c.860_861delinsCA XP_011518197.1:p.Thr287=
XM_011519896.1:c.860_861delinsCA XP_011518198.1:p.Thr287=
XM_011519897.1:c.860_861delinsCA XP_011518199.1:p.Thr287=
XM_011519898.1:c.860_861delinsCA XP_011518200.1:p.Thr287=
XR_242777.2:n.1054-32_1054-31delinsCA
XM_005252788.2:c.1061_1062delinsCA XP_005252845.1:p.Thr354=
XM_005252789.3:c.1043_1044delinsCA XP_005252846.1:p.Thr348=
XM_011519895.2:c.860_861delinsCA XP_011518197.1:p.Thr287=
XM_011519898.3:c.860_861delinsCA XP_011518200.1:p.Thr287=
XM_017017190.2:c.1040_1041delinsCA XP_016872679.1:p.Thr347=
XM_017017191.2:c.860_861delinsCA XP_016872680.1:p.Thr287=
XM_017017192.2:c.860_861delinsCA XP_016872681.1:p.Thr287=
XM_017017193.2:c.860_861delinsCA XP_016872682.1:p.Thr287=
XM_017017194.2:c.860_861delinsCA XP_016872683.1:p.Thr287=
XM_024448345.1:c.1040_1041delinsCA XP_024304113.1:p.Thr347=
XM_024448346.1:c.860_861delinsCA XP_024304114.1:p.Thr287=
XM_024448347.1:c.860_861delinsCA XP_024304115.1:p.Thr287=
XM_024448348.1:c.860_861delinsCA XP_024304116.1:p.Thr287=
XR_002957123.1:n.1017-32_1017-31delinsCA
XR_002957124.1:n.1283-32_1283-31delinsCA
XR_242777.3:n.1054-32_1054-31delinsCA
NM_001377214.1:c.860_861delinsCA NP_001364143.1:p.Thr287=
NM_001377215.1:c.860_861delinsCA NP_001364144.1:p.Thr287=
NM_001377216.1:c.860_861delinsCA NP_001364145.1:p.Thr287=
NM_001377217.1:c.1043_1044delinsCA NP_001364146.1:p.Thr348=
NM_001377227.1:c.860_861delinsCA NP_001364156.1:p.Thr287=
NM_024514.5:c.1205_1206delinsCA MANE Select NP_078790.2:p.Thr402=
NM_001400558.1:c.860_861delinsCA NP_001387487.1:p.Thr287=
NM_001400559.1:c.860_861delinsCA NP_001387488.1:p.Thr287=
NM_001400560.1:c.860_861delinsCA NP_001387489.1:p.Thr287=
NM_001400561.1:c.860_861delinsCA NP_001387490.1:p.Thr287=
NM_001400562.1:c.506_507delinsCA NP_001387491.1:p.Thr169=
NM_001400563.1:c.506_507delinsCA NP_001387492.1:p.Thr169=
NM_001400564.1:c.506_507delinsCA NP_001387493.1:p.Thr169=
NM_001400565.1:c.506_507delinsCA NP_001387494.1:p.Thr169=
NM_001400566.1:c.227_228delinsCA NP_001387495.1:p.Thr76=
NM_001400567.1:c.1061_1062delinsCA NP_001387496.1:p.Thr354=
NM_001400568.1:c.1160_1161delinsCA NP_001387497.1:p.Thr387=
NR_174512.1:n.1104-32_1104-31delinsCA
NR_174513.1:n.953-32_953-31delinsCA
NR_174514.1:n.1328-32_1328-31delinsCA
NR_174515.1:n.1737-32_1737-31delinsCA
NR_174516.1:n.915-32_915-31delinsCA
NR_174517.1:n.451-32_451-31delinsCA
NR_174518.1:n.1548-32_1548-31delinsCA
NR_174519.1:n.1295-32_1295-31delinsCA
NR_174520.1:n.1086-32_1086-31delinsCA
NR_174521.1:n.1586-32_1586-31delinsCA
NR_174522.1:n.1084-32_1084-31delinsCA
NR_174523.1:n.1495-32_1495-31delinsCA