Canonical Allele Identifier: CA449819075
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32008547T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040770T>G , CM000668.2:g.32040770T>G GRCh38
NC_000006.11:g.32008547T>G , CM000668.1:g.32008547T>G GRCh37
NC_000006.10:g.32116526T>G NCBI36
NG_007941.2:g.7463T>G
NG_008337.2:g.73605A>C
NG_007941.3:g.7466T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1221T>G MANE Select ENSP00000496625.1:p.Pro407=
ENST00000418967.6:c.1221T>G ENSP00000408860.2:p.Pro407=
ENST00000435122.3:c.1131T>G ENSP00000415043.2:p.Pro377=
ENST00000479074.5:n.1362T>G
ENST00000479730.5:n.1337T>G
ENST00000483041.5:n.1390T>G
ENST00000486063.5:n.1200T>G
NM_000500.7:c.1221T>G NP_000491.4:p.Pro407=
NM_001128590.3:c.1131T>G NP_001122062.3:p.Pro377=
XM_011514314.1:c.816T>G XP_011512616.1:p.Pro272=
NM_000500.9:c.1221T>G MANE Select NP_000491.4:p.Pro407=
NM_001368143.1:c.816T>G NP_001355072.1:p.Pro272=
NM_001368144.1:c.816T>G NP_001355073.1:p.Pro272=
NM_001128590.4:c.1131T>G NP_001122062.3:p.Pro377=
NM_001368143.2:c.816T>G NP_001355072.1:p.Pro272=
NM_001368144.2:c.816T>G NP_001355073.1:p.Pro272=