Canonical Allele Identifier: CA2678088618
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32039008-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039008A>C , CM000668.2:g.32039008A>C GRCh38
NC_000006.11:g.32006785A>C , CM000668.1:g.32006785A>C GRCh37
NC_000006.10:g.32114764A>C NCBI36
NG_007941.2:g.5701A>C
NG_007941.3:g.5704A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.293-86A>C MANE Select ENSP00000496625.1:n.293-86A>C
ENST00000418967.6:c.293-86A>C ENSP00000408860.2:n.293-86A>C
ENST00000435122.3:c.203-86A>C ENSP00000415043.2:n.203-86A>C
ENST00000464325.5:n.230-102A>C
ENST00000466779.5:c.293-67A>C ENSP00000417321.1:n.293-67A>C
ENST00000466879.5:n.258A>C
ENST00000469053.5:c.203-67A>C ENSP00000418104.1:n.203-67A>C
ENST00000471671.4:c.293-86A>C ENSP00000418561.1:n.293-86A>C
ENST00000478281.5:c.293-53A>C ENSP00000419572.1:n.293-53A>C
ENST00000479074.5:n.351-86A>C
ENST00000479730.5:n.448-86A>C
ENST00000480027.1:n.542A>C
ENST00000483041.5:n.443-67A>C
ENST00000486063.5:n.473-86A>C
ENST00000488465.1:n.301-86A>C
NM_000500.7:c.293-86A>C NP_000491.4:n.293-86A>C
NM_001128590.3:c.203-86A>C NP_001122062.3:n.203-86A>C
XM_011514314.1:c.-132-67A>C XP_011512616.1:n.-132-67A>C
NM_000500.9:c.293-86A>C MANE Select NP_000491.4:n.293-86A>C
NM_001368143.1:c.-132-67A>C NP_001355072.1:n.-132-67A>C
NM_001368144.1:c.-132-67A>C NP_001355073.1:n.-132-67A>C
NM_001128590.4:c.203-86A>C NP_001122062.3:n.203-86A>C
NM_001368143.2:c.-132-67A>C NP_001355072.1:n.-132-67A>C
NM_001368144.2:c.-132-67A>C NP_001355073.1:n.-132-67A>C