Canonical Allele Identifier: CA363505339

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1421025111
• gnomAD v2: 6-32007591-G-C
• gnomAD v4: 6-32039814-G-C
• MyVariant Identifiers: chr6:g.32007591G>C (hg19) ; chr6:g.32039814G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039814G>C , CM000668.2:g.32039814G>C	GRCh38
NC_000006.11:g.32007591G>C , CM000668.1:g.32007591G>C	GRCh37
NC_000006.10:g.32115570G>C	NCBI36
NG_007941.2:g.6507G>C
NG_008337.2:g.74561C>G
NG_007941.3:g.6510G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.717G>C MANE Select	ENSP00000496625.1:p.Glu239Asp
ENST00000418967.6:c.717G>C	ENSP00000408860.2:p.Glu239Asp
ENST00000435122.3:c.627G>C	ENSP00000415043.2:p.Glu209Asp
ENST00000462278.1:n.406G>C
ENST00000466779.5:c.*409G>C	ENSP00000417321.1:n.*409G>C
ENST00000466879.5:n.768G>C
ENST00000479074.5:n.775G>C
ENST00000479730.5:n.833G>C
ENST00000483041.5:n.886G>C
ENST00000486063.5:n.897G>C
NM_000500.7:c.717G>C	NP_000491.4:p.Glu239Asp
NM_001128590.3:c.627G>C	NP_001122062.3:p.Glu209Asp
XM_011514314.1:c.312G>C	XP_011512616.1:p.Glu104Asp
NM_000500.9:c.717G>C MANE Select	NP_000491.4:p.Glu239Asp
NM_001368143.1:c.312G>C	NP_001355072.1:p.Glu104Asp
NM_001368144.1:c.312G>C	NP_001355073.1:p.Glu104Asp
NM_001128590.4:c.627G>C	NP_001122062.3:p.Glu209Asp
NM_001368143.2:c.312G>C	NP_001355072.1:p.Glu104Asp
NM_001368144.2:c.312G>C	NP_001355073.1:p.Glu104Asp