Canonical Allele Identifier: CA15691355
Gene: CYP2R1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14888199A>T , CM000673.2:g.14888199A>T GRCh38
NC_000011.9:g.14909745A>T , CM000673.1:g.14909745A>T GRCh37
NC_000011.8:g.14866321A>T NCBI36
NG_007936.1:g.9007T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334636.10:c.226-2282T>A MANE Select ENSP00000334592.5:n.226-2282T>A
ENST00000334636.9:c.226-2282T>A ENSP00000334592.5:n.226-2282T>A
ENST00000526276.5:n.130-2282T>A
ENST00000526489.5:n.100+2233T>A
ENST00000529043.1:n.205+2233T>A
ENST00000530609.5:c.-65-2282T>A ENSP00000466060.1:n.-65-2282T>A
ENST00000532378.5:c.-66+2233T>A ENSP00000435484.1:n.-66+2233T>A
ENST00000534686.5:c.-65-2282T>A ENSP00000432087.2:n.-65-2282T>A
NM_024514.4:c.226-2282T>A NP_078790.2:n.226-2282T>A
XM_005252788.1:c.81+2233T>A XP_005252845.1:n.81+2233T>A
XM_005252789.2:c.63+2233T>A XP_005252846.1:n.63+2233T>A
XM_005252791.3:c.-320-370T>A XP_005252848.1:n.-320-370T>A
XM_006718142.2:c.181-2282T>A XP_006718205.1:n.181-2282T>A
XM_011519894.1:c.-320-370T>A XP_011518196.1:n.-320-370T>A
XM_011519895.1:c.-121+2233T>A XP_011518197.1:n.-121+2233T>A
XM_011519896.1:c.-320-370T>A XP_011518198.1:n.-320-370T>A
XM_011519897.1:c.-320-370T>A XP_011518199.1:n.-320-370T>A
XM_011519898.1:c.-120-2282T>A XP_011518200.1:n.-120-2282T>A
XR_242777.2:n.279-2282T>A
XM_005252788.2:c.81+2233T>A XP_005252845.1:n.81+2233T>A
XM_005252789.3:c.63+2233T>A XP_005252846.1:n.63+2233T>A
XM_011519895.2:c.-121+2233T>A XP_011518197.1:n.-121+2233T>A
XM_011519898.3:c.-120-2282T>A XP_011518200.1:n.-120-2282T>A
XM_017017190.2:c.-1852-370T>A XP_016872679.1:n.-1852-370T>A
XM_017017191.2:c.-120-2282T>A XP_016872680.1:n.-120-2282T>A
XM_017017192.2:c.-121+2233T>A XP_016872681.1:n.-121+2233T>A
XM_017017193.2:c.-120-2282T>A XP_016872682.1:n.-120-2282T>A
XM_017017194.2:c.-120-2282T>A XP_016872683.1:n.-120-2282T>A
XM_024448345.1:c.-1852-370T>A XP_024304113.1:n.-1852-370T>A
XM_024448346.1:c.-320-370T>A XP_024304114.1:n.-320-370T>A
XM_024448347.1:c.-320-370T>A XP_024304115.1:n.-320-370T>A
XM_024448348.1:c.-320-370T>A XP_024304116.1:n.-320-370T>A
XR_002957123.1:n.241+2233T>A
XR_002957124.1:n.507+2233T>A
XR_242777.3:n.279-2282T>A
NM_001377214.1:c.-120-2282T>A NP_001364143.1:n.-120-2282T>A
NM_001377215.1:c.-121+2233T>A NP_001364144.1:n.-121+2233T>A
NM_001377216.1:c.-120-2282T>A NP_001364145.1:n.-120-2282T>A
NM_001377217.1:c.63+2233T>A NP_001364146.1:n.63+2233T>A
NM_001377227.1:c.-120-2282T>A NP_001364156.1:n.-120-2282T>A
NM_024514.5:c.226-2282T>A MANE Select NP_078790.2:n.226-2282T>A
NM_001400558.1:c.-120-2282T>A NP_001387487.1:n.-120-2282T>A
NM_001400559.1:c.-320-370T>A NP_001387488.1:n.-320-370T>A
NM_001400560.1:c.-320-370T>A NP_001387489.1:n.-320-370T>A
NM_001400561.1:c.-121+2233T>A NP_001387490.1:n.-121+2233T>A
NM_001400562.1:c.-65-2282T>A NP_001387491.1:n.-65-2282T>A
NM_001400563.1:c.-66+2233T>A NP_001387492.1:n.-66+2233T>A
NM_001400564.1:c.-65-2282T>A NP_001387493.1:n.-65-2282T>A
NM_001400565.1:c.-66+2233T>A NP_001387494.1:n.-66+2233T>A
NM_001400566.1:c.-120-2282T>A NP_001387495.1:n.-120-2282T>A
NM_001400567.1:c.81+2233T>A NP_001387496.1:n.81+2233T>A
NM_001400568.1:c.181-2282T>A NP_001387497.1:n.181-2282T>A
NR_174512.1:n.961+2233T>A
NR_174513.1:n.810+2233T>A
NR_174514.1:n.961+2233T>A
NR_174515.1:n.961+2233T>A
NR_174516.1:n.773-2282T>A
NR_174517.1:n.309-2282T>A
NR_174518.1:n.773-2282T>A
NR_174519.1:n.520-2282T>A
NR_174520.1:n.720-2282T>A
NR_174521.1:n.810+2233T>A
NR_174522.1:n.309-2282T>A
NR_174523.1:n.720-2282T>A
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