Canonical Allele Identifier: CA935350378

Gene: CYP2R1

Linked Data

• dbSNP Id: rs1848592385
• gnomAD v3: 11-14885766-A-G
• gnomAD v4: 11-14885766-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14885766A>G , CM000673.2:g.14885766A>G	GRCh38
NC_000011.9:g.14907312A>G , CM000673.1:g.14907312A>G	GRCh37
NC_000011.8:g.14863888A>G	NCBI36
NG_007936.1:g.11440T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334636.10:c.367+10T>C MANE Select	ENSP00000334592.5:n.367+10T>C
ENST00000334636.9:c.367+10T>C	ENSP00000334592.5:n.367+10T>C
ENST00000525015.1:c.66+10T>C
ENST00000526276.5:n.271+10T>C
ENST00000526489.5:n.242+10T>C
ENST00000529043.1:n.347+10T>C
ENST00000530609.5:c.77+10T>C	ENSP00000466060.1:n.77+10T>C
ENST00000532378.5:c.77+10T>C	ENSP00000435484.1:n.77+10T>C
ENST00000532641.1:n.202+10T>C
ENST00000532805.1:c.77+10T>C	ENSP00000465097.1:n.77+10T>C
ENST00000534686.5:c.77+10T>C	ENSP00000432087.2:n.77+10T>C
NM_024514.4:c.367+10T>C	NP_078790.2:n.367+10T>C
XM_005252788.1:c.223+10T>C	XP_005252845.1:n.223+10T>C
XM_005252789.2:c.205+10T>C	XP_005252846.1:n.205+10T>C
XM_005252791.3:c.22+10T>C	XP_005252848.1:n.22+10T>C
XM_006718142.2:c.322+10T>C	XP_006718205.1:n.322+10T>C
XM_011519894.1:c.22+10T>C	XP_011518196.1:n.22+10T>C
XM_011519895.1:c.22+10T>C	XP_011518197.1:n.22+10T>C
XM_011519896.1:c.22+10T>C	XP_011518198.1:n.22+10T>C
XM_011519897.1:c.22+10T>C	XP_011518199.1:n.22+10T>C
XM_011519898.1:c.22+10T>C	XP_011518200.1:n.22+10T>C
XR_242777.2:n.420+10T>C
XM_005252788.2:c.223+10T>C	XP_005252845.1:n.223+10T>C
XM_005252789.3:c.205+10T>C	XP_005252846.1:n.205+10T>C
XM_011519895.2:c.22+10T>C	XP_011518197.1:n.22+10T>C
XM_011519898.3:c.22+10T>C	XP_011518200.1:n.22+10T>C
XM_017017190.2:c.202+10T>C	XP_016872679.1:n.202+10T>C
XM_017017191.2:c.22+10T>C	XP_016872680.1:n.22+10T>C
XM_017017192.2:c.22+10T>C	XP_016872681.1:n.22+10T>C
XM_017017193.2:c.22+10T>C	XP_016872682.1:n.22+10T>C
XM_017017194.2:c.22+10T>C	XP_016872683.1:n.22+10T>C
XM_024448345.1:c.202+10T>C	XP_024304113.1:n.202+10T>C
XM_024448346.1:c.22+10T>C	XP_024304114.1:n.22+10T>C
XM_024448347.1:c.22+10T>C	XP_024304115.1:n.22+10T>C
XM_024448348.1:c.22+10T>C	XP_024304116.1:n.22+10T>C
XR_002957123.1:n.383+10T>C
XR_002957124.1:n.649+10T>C
XR_242777.3:n.420+10T>C
NM_001377214.1:c.22+10T>C	NP_001364143.1:n.22+10T>C
NM_001377215.1:c.22+10T>C	NP_001364144.1:n.22+10T>C
NM_001377216.1:c.22+10T>C	NP_001364145.1:n.22+10T>C
NM_001377217.1:c.205+10T>C	NP_001364146.1:n.205+10T>C
NM_001377227.1:c.22+10T>C	NP_001364156.1:n.22+10T>C
NM_024514.5:c.367+10T>C MANE Select	NP_078790.2:n.367+10T>C
NM_001400558.1:c.22+10T>C	NP_001387487.1:n.22+10T>C
NM_001400559.1:c.22+10T>C	NP_001387488.1:n.22+10T>C
NM_001400560.1:c.22+10T>C	NP_001387489.1:n.22+10T>C
NM_001400561.1:c.22+10T>C	NP_001387490.1:n.22+10T>C
NM_001400562.1:c.77+10T>C	NP_001387491.1:n.77+10T>C
NM_001400563.1:c.77+10T>C	NP_001387492.1:n.77+10T>C
NM_001400564.1:c.77+10T>C	NP_001387493.1:n.77+10T>C
NM_001400565.1:c.77+10T>C	NP_001387494.1:n.77+10T>C
NM_001400566.1:c.22+10T>C	NP_001387495.1:n.22+10T>C
NM_001400567.1:c.223+10T>C	NP_001387496.1:n.223+10T>C
NM_001400568.1:c.322+10T>C	NP_001387497.1:n.322+10T>C
NR_174512.1:n.1103+10T>C
NR_174513.1:n.952+10T>C
NR_174514.1:n.1103+10T>C
NR_174515.1:n.1103+10T>C
NR_174516.1:n.914+10T>C
NR_174517.1:n.450+10T>C
NR_174518.1:n.914+10T>C
NR_174519.1:n.661+10T>C
NR_174520.1:n.861+10T>C
NR_174521.1:n.952+10T>C
NR_174522.1:n.450+10T>C
NR_174523.1:n.861+10T>C