Canonical Allele Identifier: CA363501786

Gene: CYP21A2

Linked Data

• dbSNP Id: rs774422392
• gnomAD v4: 6-32039222-G-C
• MyVariant Identifiers: chr6:g.32006999G>C (hg19) ; chr6:g.32039222G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039222G>C , CM000668.2:g.32039222G>C	GRCh38
NC_000006.11:g.32006999G>C , CM000668.1:g.32006999G>C	GRCh37
NC_000006.10:g.32114978G>C	NCBI36
NG_007941.2:g.5915G>C
NG_008337.2:g.75153C>G
NG_007941.3:g.5918G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.421G>C MANE Select	ENSP00000496625.1:p.Glu141Gln
ENST00000418967.6:c.421G>C	ENSP00000408860.2:p.Glu141Gln
ENST00000435122.3:c.331G>C	ENSP00000415043.2:p.Glu111Gln
ENST00000462278.1:n.9G>C
ENST00000464325.5:n.342G>C
ENST00000466779.5:c.*113G>C	ENSP00000417321.1:n.*113G>C
ENST00000466879.5:n.472G>C
ENST00000469053.5:c.*113G>C	ENSP00000418104.1:n.*113G>C
ENST00000471671.4:c.421G>C	ENSP00000418561.1:p.Glu141Gln
ENST00000478281.5:c.454G>C	ENSP00000419572.1:p.Glu152Gln
ENST00000479074.5:n.479G>C
ENST00000479730.5:n.576G>C
ENST00000483041.5:n.590G>C
ENST00000486063.5:n.601G>C
ENST00000488465.1:n.429G>C
NM_000500.7:c.421G>C	NP_000491.4:p.Glu141Gln
NM_001128590.3:c.331G>C	NP_001122062.3:p.Glu111Gln
XM_011514314.1:c.16G>C	XP_011512616.1:p.Glu6Gln
NM_000500.9:c.421G>C MANE Select	NP_000491.4:p.Glu141Gln
NM_001368143.1:c.16G>C	NP_001355072.1:p.Glu6Gln
NM_001368144.1:c.16G>C	NP_001355073.1:p.Glu6Gln
NM_001128590.4:c.331G>C	NP_001122062.3:p.Glu111Gln
NM_001368143.2:c.16G>C	NP_001355072.1:p.Glu6Gln
NM_001368144.2:c.16G>C	NP_001355073.1:p.Glu6Gln