Canonical Allele Identifier: CA363505923

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1268879450
• gnomAD v2: 6-32007805-G-T
• gnomAD v4: 6-32040028-G-T
• MyVariant Identifiers: chr6:g.32007805G>T (hg19) ; chr6:g.32040028G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040028G>T , CM000668.2:g.32040028G>T	GRCh38
NC_000006.11:g.32007805G>T , CM000668.1:g.32007805G>T	GRCh37
NC_000006.10:g.32115784G>T	NCBI36
NG_007941.2:g.6721G>T
NG_008337.2:g.74347C>A
NG_007941.3:g.6724G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.762G>T MANE Select	ENSP00000496625.1:p.Trp254Cys
ENST00000418967.6:c.762G>T	ENSP00000408860.2:p.Trp254Cys
ENST00000435122.3:c.672G>T	ENSP00000415043.2:p.Trp224Cys
ENST00000479074.5:n.820G>T
ENST00000479730.5:n.878G>T
ENST00000483041.5:n.931G>T
ENST00000486063.5:n.918+193G>T
NM_000500.7:c.762G>T	NP_000491.4:p.Trp254Cys
NM_001128590.3:c.672G>T	NP_001122062.3:p.Trp224Cys
XM_011514314.1:c.357G>T	XP_011512616.1:p.Trp119Cys
NM_000500.9:c.762G>T MANE Select	NP_000491.4:p.Trp254Cys
NM_001368143.1:c.357G>T	NP_001355072.1:p.Trp119Cys
NM_001368144.1:c.357G>T	NP_001355073.1:p.Trp119Cys
NM_001128590.4:c.672G>T	NP_001122062.3:p.Trp224Cys
NM_001368143.2:c.357G>T	NP_001355072.1:p.Trp119Cys
NM_001368144.2:c.357G>T	NP_001355073.1:p.Trp119Cys