Canonical Allele Identifier: CA449818990
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32008517G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040740G>C , CM000668.2:g.32040740G>C GRCh38
NC_000006.11:g.32008517G>C , CM000668.1:g.32008517G>C GRCh37
NC_000006.10:g.32116496G>C NCBI36
NG_007941.2:g.7433G>C
NG_008337.2:g.73635C>G
NG_007941.3:g.7436G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1191G>C MANE Select ENSP00000496625.1:p.Thr397=
ENST00000418967.6:c.1191G>C ENSP00000408860.2:p.Thr397=
ENST00000435122.3:c.1101G>C ENSP00000415043.2:p.Thr367=
ENST00000479074.5:n.1332G>C
ENST00000479730.5:n.1307G>C
ENST00000483041.5:n.1360G>C
ENST00000486063.5:n.1170G>C
NM_000500.7:c.1191G>C NP_000491.4:p.Thr397=
NM_001128590.3:c.1101G>C NP_001122062.3:p.Thr367=
XM_011514314.1:c.786G>C XP_011512616.1:p.Thr262=
NM_000500.9:c.1191G>C MANE Select NP_000491.4:p.Thr397=
NM_001368143.1:c.786G>C NP_001355072.1:p.Thr262=
NM_001368144.1:c.786G>C NP_001355073.1:p.Thr262=
NM_001128590.4:c.1101G>C NP_001122062.3:p.Thr367=
NM_001368143.2:c.786G>C NP_001355072.1:p.Thr262=
NM_001368144.2:c.786G>C NP_001355073.1:p.Thr262=