Canonical Allele Identifier: CA5896526

Gene: CYP2R1

Linked Data

• ClinVar Variation Id: 2193872
• ClinVar RCV Id: RCV002612360
• dbSNP Id: rs201004240
• ExAC: 11:14900710 T / C
• gnomAD v2: 11-14900710-T-C
• gnomAD v3: 11-14879164-T-C
• gnomAD v4: 11-14879164-T-C
• MyVariant Identifiers: chr11:g.14900710T>C (hg19) ; chr11:g.14879164T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14879164T>C , CM000673.2:g.14879164T>C	GRCh38
NC_000011.9:g.14900710T>C , CM000673.1:g.14900710T>C	GRCh37
NC_000011.8:g.14857286T>C	NCBI36
NG_007936.1:g.18042A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334636.10:c.1280A>G MANE Select	ENSP00000334592.5:p.Asp427Gly
ENST00000334636.9:c.1280A>G	ENSP00000334592.5:p.Asp427Gly
ENST00000525015.1:c.110A>G
ENST00000530609.5:c.*876A>G	ENSP00000466060.1:n.*876A>G
ENST00000532378.5:c.581A>G	ENSP00000435484.1:p.Asp194Gly
ENST00000532805.1:c.*388A>G	ENSP00000465097.1:n.*388A>G
ENST00000534686.5:c.*640A>G	ENSP00000432087.2:n.*640A>G
NM_024514.4:c.1280A>G	NP_078790.2:p.Asp427Gly
XM_005252788.1:c.1136A>G	XP_005252845.1:p.Asp379Gly
XM_005252789.2:c.1118A>G	XP_005252846.1:p.Asp373Gly
XM_005252791.3:c.935A>G	XP_005252848.1:p.Asp312Gly
XM_006718142.2:c.1235A>G	XP_006718205.1:p.Asp412Gly
XM_011519894.1:c.935A>G	XP_011518196.1:p.Asp312Gly
XM_011519895.1:c.935A>G	XP_011518197.1:p.Asp312Gly
XM_011519896.1:c.935A>G	XP_011518198.1:p.Asp312Gly
XM_011519897.1:c.935A>G	XP_011518199.1:p.Asp312Gly
XM_011519898.1:c.935A>G	XP_011518200.1:p.Asp312Gly
XR_242777.2:n.1097A>G
XM_005252788.2:c.1136A>G	XP_005252845.1:p.Asp379Gly
XM_005252789.3:c.1118A>G	XP_005252846.1:p.Asp373Gly
XM_011519895.2:c.935A>G	XP_011518197.1:p.Asp312Gly
XM_011519898.3:c.935A>G	XP_011518200.1:p.Asp312Gly
XM_017017190.2:c.1115A>G	XP_016872679.1:p.Asp372Gly
XM_017017191.2:c.935A>G	XP_016872680.1:p.Asp312Gly
XM_017017192.2:c.935A>G	XP_016872681.1:p.Asp312Gly
XM_017017193.2:c.935A>G	XP_016872682.1:p.Asp312Gly
XM_017017194.2:c.935A>G	XP_016872683.1:p.Asp312Gly
XM_024448345.1:c.1115A>G	XP_024304113.1:p.Asp372Gly
XM_024448346.1:c.935A>G	XP_024304114.1:p.Asp312Gly
XM_024448347.1:c.935A>G	XP_024304115.1:p.Asp312Gly
XM_024448348.1:c.935A>G	XP_024304116.1:p.Asp312Gly
XR_002957123.1:n.1060A>G
XR_002957124.1:n.1326A>G
XR_242777.3:n.1097A>G
NM_001377214.1:c.935A>G	NP_001364143.1:p.Asp312Gly
NM_001377215.1:c.935A>G	NP_001364144.1:p.Asp312Gly
NM_001377216.1:c.935A>G	NP_001364145.1:p.Asp312Gly
NM_001377217.1:c.1118A>G	NP_001364146.1:p.Asp373Gly
NM_001377227.1:c.935A>G	NP_001364156.1:p.Asp312Gly
NM_024514.5:c.1280A>G MANE Select	NP_078790.2:p.Asp427Gly
NM_001400558.1:c.935A>G	NP_001387487.1:p.Asp312Gly
NM_001400559.1:c.935A>G	NP_001387488.1:p.Asp312Gly
NM_001400560.1:c.935A>G	NP_001387489.1:p.Asp312Gly
NM_001400561.1:c.935A>G	NP_001387490.1:p.Asp312Gly
NM_001400562.1:c.581A>G	NP_001387491.1:p.Asp194Gly
NM_001400563.1:c.581A>G	NP_001387492.1:p.Asp194Gly
NM_001400564.1:c.581A>G	NP_001387493.1:p.Asp194Gly
NM_001400565.1:c.581A>G	NP_001387494.1:p.Asp194Gly
NM_001400566.1:c.302A>G	NP_001387495.1:p.Asp101Gly
NM_001400567.1:c.1136A>G	NP_001387496.1:p.Asp379Gly
NM_001400568.1:c.1235A>G	NP_001387497.1:p.Asp412Gly
NR_174512.1:n.1147A>G
NR_174513.1:n.996A>G
NR_174514.1:n.1371A>G
NR_174515.1:n.1780A>G
NR_174516.1:n.958A>G
NR_174517.1:n.494A>G
NR_174518.1:n.1591A>G
NR_174519.1:n.1338A>G
NR_174520.1:n.1129A>G
NR_174521.1:n.1629A>G
NR_174522.1:n.1127A>G
NR_174523.1:n.1538A>G