Canonical Allele Identifier: CA449819210
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32008668G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040891G>A , CM000668.2:g.32040891G>A GRCh38
NC_000006.11:g.32008668G>A , CM000668.1:g.32008668G>A GRCh37
NC_000006.10:g.32116647G>A NCBI36
NG_007941.2:g.7584G>A
NG_008337.2:g.73484C>T
NG_007941.3:g.7587G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1245G>A MANE Select ENSP00000496625.1:p.Lys415=
ENST00000418967.6:c.1245G>A ENSP00000408860.2:p.Lys415=
ENST00000435122.3:c.1155G>A ENSP00000415043.2:p.Lys385=
ENST00000479074.5:n.1386G>A
ENST00000479730.5:n.1361G>A
ENST00000483041.5:n.1414G>A
ENST00000486063.5:n.1224G>A
NM_000500.7:c.1245G>A NP_000491.4:p.Lys415=
NM_001128590.3:c.1155G>A NP_001122062.3:p.Lys385=
XM_011514314.1:c.840G>A XP_011512616.1:p.Lys280=
NM_000500.9:c.1245G>A MANE Select NP_000491.4:p.Lys415=
NM_001368143.1:c.840G>A NP_001355072.1:p.Lys280=
NM_001368144.1:c.840G>A NP_001355073.1:p.Lys280=
NM_001128590.4:c.1155G>A NP_001122062.3:p.Lys385=
NM_001368143.2:c.840G>A NP_001355072.1:p.Lys280=
NM_001368144.2:c.840G>A NP_001355073.1:p.Lys280=