Canonical Allele Identifier: CA363501151
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039162A>G , CM000668.2:g.32039162A>G GRCh38
NC_000006.11:g.32006939A>G , CM000668.1:g.32006939A>G GRCh37
NC_000006.10:g.32114918A>G NCBI36
NG_007941.2:g.5855A>G
NG_008337.2:g.75213T>C
NG_007941.3:g.5858A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.361A>G MANE Select ENSP00000496625.1:p.Lys121Glu
ENST00000418967.6:c.361A>G ENSP00000408860.2:p.Lys121Glu
ENST00000435122.3:c.271A>G ENSP00000415043.2:p.Lys91Glu
ENST00000464325.5:n.282A>G
ENST00000466779.5:c.*53A>G ENSP00000417321.1:n.*53A>G
ENST00000466879.5:n.412A>G
ENST00000469053.5:c.*53A>G ENSP00000418104.1:n.*53A>G
ENST00000471671.4:c.361A>G ENSP00000418561.1:p.Lys121Glu
ENST00000478281.5:c.394A>G ENSP00000419572.1:p.Lys132Glu
ENST00000479074.5:n.419A>G
ENST00000479730.5:n.516A>G
ENST00000483041.5:n.530A>G
ENST00000486063.5:n.541A>G
ENST00000488465.1:n.369A>G
NM_000500.7:c.361A>G NP_000491.4:p.Lys121Glu
NM_001128590.3:c.271A>G NP_001122062.3:p.Lys91Glu
XM_011514314.1:c.-45A>G XP_011512616.1:n.-45A>G
NM_000500.9:c.361A>G MANE Select NP_000491.4:p.Lys121Glu
NM_001368143.1:c.-45A>G NP_001355072.1:n.-45A>G
NM_001368144.1:c.-45A>G NP_001355073.1:n.-45A>G
NM_001128590.4:c.271A>G NP_001122062.3:p.Lys91Glu
NM_001368143.2:c.-45A>G NP_001355072.1:n.-45A>G
NM_001368144.2:c.-45A>G NP_001355073.1:n.-45A>G