Canonical Allele Identifier: CA363504084

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007394C>G (hg19) ; chr6:g.32039617C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039617C>G , CM000668.2:g.32039617C>G	GRCh38
NC_000006.11:g.32007394C>G , CM000668.1:g.32007394C>G	GRCh37
NC_000006.10:g.32115373C>G	NCBI36
NG_007941.2:g.6310C>G
NG_008337.2:g.74758G>C
NG_007941.3:g.6313C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.621C>G MANE Select	ENSP00000496625.1:p.Ile207Met
ENST00000418967.6:c.621C>G	ENSP00000408860.2:p.Ile207Met
ENST00000435122.3:c.531C>G	ENSP00000415043.2:p.Ile177Met
ENST00000462278.1:n.209C>G
ENST00000464325.5:n.542C>G
ENST00000466779.5:c.*313C>G	ENSP00000417321.1:n.*313C>G
ENST00000466879.5:n.672C>G
ENST00000469053.5:c.*313C>G	ENSP00000418104.1:n.*313C>G
ENST00000479074.5:n.679C>G
ENST00000479730.5:n.737C>G
ENST00000483041.5:n.790C>G
ENST00000486063.5:n.801C>G
NM_000500.7:c.621C>G	NP_000491.4:p.Ile207Met
NM_001128590.3:c.531C>G	NP_001122062.3:p.Ile177Met
XM_011514314.1:c.216C>G	XP_011512616.1:p.Ile72Met
NM_000500.9:c.621C>G MANE Select	NP_000491.4:p.Ile207Met
NM_001368143.1:c.216C>G	NP_001355072.1:p.Ile72Met
NM_001368144.1:c.216C>G	NP_001355073.1:p.Ile72Met
NM_001128590.4:c.531C>G	NP_001122062.3:p.Ile177Met
NM_001368143.2:c.216C>G	NP_001355072.1:p.Ile72Met
NM_001368144.2:c.216C>G	NP_001355073.1:p.Ile72Met