Canonical Allele Identifier: CA15679082
Gene: CYP2R1 HGNC NCBI

Linked Data

dbSNP Id: rs1993116
gnomAD v2: 11-14910234-A-G
gnomAD v3: 11-14888688-A-G
gnomAD v4: 11-14888688-A-G
MyVariant Identifiers: chr11:g.14910234A>G (hg19) chr11:g.14888688A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14888688A>G , CM000673.2:g.14888688A>G GRCh38
NC_000011.9:g.14910234A>G , CM000673.1:g.14910234A>G GRCh37
NC_000011.8:g.14866810A>G NCBI36
NG_007936.1:g.8518T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000334636.10:c.226-2771T>C MANE Select ENSP00000334592.5:n.226-2771T>C
ENST00000334636.9:c.226-2771T>C ENSP00000334592.5:n.226-2771T>C
ENST00000526276.5:n.129+2676T>C
ENST00000526489.5:n.100+1744T>C
ENST00000529043.1:n.205+1744T>C
ENST00000530609.5:c.-66+2465T>C ENSP00000466060.1:n.-66+2465T>C
ENST00000532378.5:c.-66+1744T>C ENSP00000435484.1:n.-66+1744T>C
ENST00000534686.5:c.-66+2465T>C ENSP00000432087.2:n.-66+2465T>C
NM_024514.4:c.226-2771T>C NP_078790.2:n.226-2771T>C
XM_005252788.1:c.81+1744T>C XP_005252845.1:n.81+1744T>C
XM_005252789.2:c.63+1744T>C XP_005252846.1:n.63+1744T>C
XM_005252791.3:c.-320-859T>C XP_005252848.1:n.-320-859T>C
XM_006718142.2:c.180+2676T>C XP_006718205.1:n.180+2676T>C
XM_011519894.1:c.-320-859T>C XP_011518196.1:n.-320-859T>C
XM_011519895.1:c.-121+1744T>C XP_011518197.1:n.-121+1744T>C
XM_011519896.1:c.-320-859T>C XP_011518198.1:n.-320-859T>C
XM_011519897.1:c.-320-859T>C XP_011518199.1:n.-320-859T>C
XM_011519898.1:c.-120-2771T>C XP_011518200.1:n.-120-2771T>C
XR_242777.2:n.279-2771T>C
XM_005252788.2:c.81+1744T>C XP_005252845.1:n.81+1744T>C
XM_005252789.3:c.63+1744T>C XP_005252846.1:n.63+1744T>C
XM_011519895.2:c.-121+1744T>C XP_011518197.1:n.-121+1744T>C
XM_011519898.3:c.-120-2771T>C XP_011518200.1:n.-120-2771T>C
XM_017017190.2:c.-1852-859T>C XP_016872679.1:n.-1852-859T>C
XM_017017191.2:c.-121+2212T>C XP_016872680.1:n.-121+2212T>C
XM_017017192.2:c.-121+1744T>C XP_016872681.1:n.-121+1744T>C
XM_017017193.2:c.-121+2265T>C XP_016872682.1:n.-121+2265T>C
XM_017017194.2:c.-121+2465T>C XP_016872683.1:n.-121+2465T>C
XM_024448345.1:c.-1852-859T>C XP_024304113.1:n.-1852-859T>C
XM_024448346.1:c.-320-859T>C XP_024304114.1:n.-320-859T>C
XM_024448347.1:c.-320-859T>C XP_024304115.1:n.-320-859T>C
XM_024448348.1:c.-320-859T>C XP_024304116.1:n.-320-859T>C
XR_002957123.1:n.241+1744T>C
XR_002957124.1:n.507+1744T>C
XR_242777.3:n.279-2771T>C
NM_001377214.1:c.-121+2212T>C NP_001364143.1:n.-121+2212T>C
NM_001377215.1:c.-121+1744T>C NP_001364144.1:n.-121+1744T>C
NM_001377216.1:c.-121+2265T>C NP_001364145.1:n.-121+2265T>C
NM_001377217.1:c.63+1744T>C NP_001364146.1:n.63+1744T>C
NM_001377227.1:c.-121+2465T>C NP_001364156.1:n.-121+2465T>C
NM_024514.5:c.226-2771T>C MANE Select NP_078790.2:n.226-2771T>C
NM_001400558.1:c.-120-2771T>C NP_001387487.1:n.-120-2771T>C
NM_001400559.1:c.-320-859T>C NP_001387488.1:n.-320-859T>C
NM_001400560.1:c.-320-859T>C NP_001387489.1:n.-320-859T>C
NM_001400561.1:c.-121+1744T>C NP_001387490.1:n.-121+1744T>C
NM_001400562.1:c.-66+2465T>C NP_001387491.1:n.-66+2465T>C
NM_001400563.1:c.-66+1744T>C NP_001387492.1:n.-66+1744T>C
NM_001400564.1:c.-66+2265T>C NP_001387493.1:n.-66+2265T>C
NM_001400565.1:c.-66+1744T>C NP_001387494.1:n.-66+1744T>C
NM_001400566.1:c.-121+2465T>C NP_001387495.1:n.-121+2465T>C
NM_001400567.1:c.81+1744T>C NP_001387496.1:n.81+1744T>C
NM_001400568.1:c.180+2676T>C NP_001387497.1:n.180+2676T>C
NR_174512.1:n.961+1744T>C
NR_174513.1:n.810+1744T>C
NR_174514.1:n.961+1744T>C
NR_174515.1:n.961+1744T>C
NR_174516.1:n.772+2212T>C
NR_174517.1:n.308+2676T>C
NR_174518.1:n.772+2212T>C
NR_174519.1:n.519+2465T>C
NR_174520.1:n.719+2265T>C
NR_174521.1:n.810+1744T>C
NR_174522.1:n.308+2676T>C
NR_174523.1:n.719+2265T>C
Search 100 bp 5'
Search 100 bp 3'