Canonical Allele Identifier: CA449818488

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1283610597
• gnomAD v2: 6-32006292-G-A
• gnomAD v4: 6-32038515-G-A
• MyVariant Identifiers: chr6:g.32006292G>A (hg19) ; chr6:g.32038515G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038515G>A , CM000668.2:g.32038515G>A	GRCh38
NC_000006.11:g.32006292G>A , CM000668.1:g.32006292G>A	GRCh37
NC_000006.10:g.32114271G>A	NCBI36
NG_007941.2:g.5208G>A
NG_007941.3:g.5211G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.93G>A MANE Select	ENSP00000496625.1:p.Pro31=
ENST00000418967.6:c.93G>A	ENSP00000408860.2:p.Pro31=
ENST00000435122.3:c.93G>A	ENSP00000415043.2:p.Pro31=
ENST00000466779.5:c.93G>A	ENSP00000417321.1:p.Pro31=
ENST00000469053.5:c.93G>A	ENSP00000418104.1:p.Pro31=
ENST00000471671.4:c.93G>A	ENSP00000418561.1:p.Pro31=
ENST00000478281.5:c.93G>A	ENSP00000419572.1:p.Pro31=
ENST00000479074.5:n.151G>A
ENST00000479730.5:n.151G>A
ENST00000480027.1:n.146G>A
ENST00000483041.5:n.146G>A
ENST00000486063.5:n.176G>A
ENST00000488465.1:n.101G>A
NM_000500.7:c.93G>A	NP_000491.4:p.Pro31=
NM_001128590.3:c.93G>A	NP_001122062.3:p.Pro31=
XM_011514314.1:c.-332G>A	XP_011512616.1:n.-332G>A
NM_000500.9:c.93G>A MANE Select	NP_000491.4:p.Pro31=
NM_001368143.1:c.-332G>A	NP_001355072.1:n.-332G>A
NM_001368144.1:c.-242G>A	NP_001355073.1:n.-242G>A
NM_001128590.4:c.93G>A	NP_001122062.3:p.Pro31=
NM_001368143.2:c.-332G>A	NP_001355072.1:n.-332G>A
NM_001368144.2:c.-242G>A	NP_001355073.1:n.-242G>A