Canonical Allele Identifier: CA449729732
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32007889G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040112G>A , CM000668.2:g.32040112G>A GRCh38
NC_000006.11:g.32007889G>A , CM000668.1:g.32007889G>A GRCh37
NC_000006.10:g.32115868G>A NCBI36
NG_007941.2:g.6805G>A
NG_008337.2:g.74263C>T
NG_007941.3:g.6808G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.846G>A MANE Select ENSP00000496625.1:p.Val282=
ENST00000418967.6:c.846G>A ENSP00000408860.2:p.Val282=
ENST00000435122.3:c.756G>A ENSP00000415043.2:p.Val252=
ENST00000479074.5:n.904G>A
ENST00000479730.5:n.962G>A
ENST00000483041.5:n.1015G>A
ENST00000486063.5:n.918+277G>A
NM_000500.7:c.846G>A NP_000491.4:p.Val282=
NM_001128590.3:c.756G>A NP_001122062.3:p.Val252=
XM_011514314.1:c.441G>A XP_011512616.1:p.Val147=
NM_000500.9:c.846G>A MANE Select NP_000491.4:p.Val282=
NM_001368143.1:c.441G>A NP_001355072.1:p.Val147=
NM_001368144.1:c.441G>A NP_001355073.1:p.Val147=
NM_001128590.4:c.756G>A NP_001122062.3:p.Val252=
NM_001368143.2:c.441G>A NP_001355072.1:p.Val147=
NM_001368144.2:c.441G>A NP_001355073.1:p.Val147=