Canonical Allele Identifier: CA363511301

Gene: CYP21A2

Linked Data

• dbSNP Id: rs546660952
• gnomAD v2: 6-32008486-C-A
• gnomAD v4: 6-32040709-C-A
• MyVariant Identifiers: chr6:g.32008486C>A (hg19) ; chr6:g.32040709C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040709C>A , CM000668.2:g.32040709C>A	GRCh38
NC_000006.11:g.32008486C>A , CM000668.1:g.32008486C>A	GRCh37
NC_000006.10:g.32116465C>A	NCBI36
NG_007941.2:g.7402C>A
NG_008337.2:g.73666G>T
NG_007941.3:g.7405C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1160C>A MANE Select	ENSP00000496625.1:p.Pro387Gln
ENST00000418967.6:c.1160C>A	ENSP00000408860.2:p.Pro387Gln
ENST00000435122.3:c.1070C>A	ENSP00000415043.2:p.Pro357Gln
ENST00000479074.5:n.1301C>A
ENST00000479730.5:n.1276C>A
ENST00000483041.5:n.1329C>A
ENST00000486063.5:n.1139C>A
NM_000500.7:c.1160C>A	NP_000491.4:p.Pro387Gln
NM_001128590.3:c.1070C>A	NP_001122062.3:p.Pro357Gln
XM_011514314.1:c.755C>A	XP_011512616.1:p.Pro252Gln
NM_000500.9:c.1160C>A MANE Select	NP_000491.4:p.Pro387Gln
NM_001368143.1:c.755C>A	NP_001355072.1:p.Pro252Gln
NM_001368144.1:c.755C>A	NP_001355073.1:p.Pro252Gln
NM_001128590.4:c.1070C>A	NP_001122062.3:p.Pro357Gln
NM_001368143.2:c.755C>A	NP_001355072.1:p.Pro252Gln
NM_001368144.2:c.755C>A	NP_001355073.1:p.Pro252Gln