Canonical Allele Identifier: CA115362
Gene: CYP2R1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2134
ClinVar RCV Id: RCV000002216 RCV001195424 RCV001371299
dbSNP Id: rs61495246
ExAC: 11:14907393 A / G
gnomAD v2: 11-14907393-A-G
gnomAD v3: 11-14885847-A-G
gnomAD v4: 11-14885847-A-G
MyVariant Identifiers: chr11:g.14907393A>G (hg19) chr11:g.14885847A>G (hg38)
PubMed: PMID:8201479 PMID:10969262 PMID:15128933
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14885847A>G , CM000673.2:g.14885847A>G GRCh38
NC_000011.9:g.14907393A>G , CM000673.1:g.14907393A>G GRCh37
NC_000011.8:g.14863969A>G NCBI36
NG_007936.1:g.11359T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000334636.10:c.296T>C MANE Select ENSP00000334592.5:p.Leu99Pro
ENST00000334636.9:c.296T>C ENSP00000334592.5:p.Leu99Pro
ENST00000526276.5:n.200T>C
ENST00000526489.5:n.171T>C
ENST00000529043.1:n.276T>C
ENST00000530609.5:c.6T>C ENSP00000466060.1:p.Pro2=
ENST00000532378.5:c.6T>C ENSP00000435484.1:p.Pro2=
ENST00000532641.1:n.131T>C
ENST00000532805.1:c.6T>C ENSP00000465097.1:p.Pro2=
ENST00000534686.5:c.6T>C ENSP00000432087.2:p.Pro2=
NM_024514.4:c.296T>C NP_078790.2:p.Leu99Pro
XM_005252788.1:c.152T>C XP_005252845.1:p.Leu51Pro
XM_005252789.2:c.134T>C XP_005252846.1:p.Leu45Pro
XM_005252791.3:c.-50T>C XP_005252848.1:n.-50T>C
XM_006718142.2:c.251T>C XP_006718205.1:p.Leu84Pro
XM_011519894.1:c.-50T>C XP_011518196.1:n.-50T>C
XM_011519895.1:c.-50T>C XP_011518197.1:n.-50T>C
XM_011519896.1:c.-50T>C XP_011518198.1:n.-50T>C
XM_011519897.1:c.-50T>C XP_011518199.1:n.-50T>C
XM_011519898.1:c.-50T>C XP_011518200.1:n.-50T>C
XR_242777.2:n.349T>C
XM_005252788.2:c.152T>C XP_005252845.1:p.Leu51Pro
XM_005252789.3:c.134T>C XP_005252846.1:p.Leu45Pro
XM_011519895.2:c.-50T>C XP_011518197.1:n.-50T>C
XM_011519898.3:c.-50T>C XP_011518200.1:n.-50T>C
XM_017017190.2:c.131T>C XP_016872679.1:p.Leu44Pro
XM_017017191.2:c.-50T>C XP_016872680.1:n.-50T>C
XM_017017192.2:c.-50T>C XP_016872681.1:n.-50T>C
XM_017017193.2:c.-50T>C XP_016872682.1:n.-50T>C
XM_017017194.2:c.-50T>C XP_016872683.1:n.-50T>C
XM_024448345.1:c.131T>C XP_024304113.1:p.Leu44Pro
XM_024448346.1:c.-50T>C XP_024304114.1:n.-50T>C
XM_024448347.1:c.-50T>C XP_024304115.1:n.-50T>C
XM_024448348.1:c.-50T>C XP_024304116.1:n.-50T>C
XR_002957123.1:n.312T>C
XR_002957124.1:n.578T>C
XR_242777.3:n.349T>C
NM_001377214.1:c.-50T>C NP_001364143.1:n.-50T>C
NM_001377215.1:c.-50T>C NP_001364144.1:n.-50T>C
NM_001377216.1:c.-50T>C NP_001364145.1:n.-50T>C
NM_001377217.1:c.134T>C NP_001364146.1:p.Leu45Pro
NM_001377227.1:c.-50T>C NP_001364156.1:n.-50T>C
NM_024514.5:c.296T>C MANE Select NP_078790.2:p.Leu99Pro
NM_001400558.1:c.-50T>C NP_001387487.1:n.-50T>C
NM_001400559.1:c.-50T>C NP_001387488.1:n.-50T>C
NM_001400560.1:c.-50T>C NP_001387489.1:n.-50T>C
NM_001400561.1:c.-50T>C NP_001387490.1:n.-50T>C
NM_001400562.1:c.6T>C NP_001387491.1:p.Pro2=
NM_001400563.1:c.6T>C NP_001387492.1:p.Pro2=
NM_001400564.1:c.6T>C NP_001387493.1:p.Pro2=
NM_001400565.1:c.6T>C NP_001387494.1:p.Pro2=
NM_001400566.1:c.-50T>C NP_001387495.1:n.-50T>C
NM_001400567.1:c.152T>C NP_001387496.1:p.Leu51Pro
NM_001400568.1:c.251T>C NP_001387497.1:p.Leu84Pro
NR_174512.1:n.1032T>C
NR_174513.1:n.881T>C
NR_174514.1:n.1032T>C
NR_174515.1:n.1032T>C
NR_174516.1:n.843T>C
NR_174517.1:n.379T>C
NR_174518.1:n.843T>C
NR_174519.1:n.590T>C
NR_174520.1:n.790T>C
NR_174521.1:n.881T>C
NR_174522.1:n.379T>C
NR_174523.1:n.790T>C
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