Canonical Allele Identifier: CA3732548

Gene: CYP21A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040072G>A , CM000668.2:g.32040072G>A	GRCh38
NC_000006.11:g.32007849G>A , CM000668.1:g.32007849G>A	GRCh37
NC_000006.10:g.32115828G>A	NCBI36
NG_007941.2:g.6765G>A
NG_008337.2:g.74303C>T
NG_007941.3:g.6768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.806G>A MANE Select	ENSP00000496625.1:p.Ser269Asn
ENST00000418967.6:c.806G>A	ENSP00000408860.2:p.Ser269Asn
ENST00000435122.3:c.716G>A	ENSP00000415043.2:p.Ser239Asn
ENST00000479074.5:n.864G>A
ENST00000479730.5:n.922G>A
ENST00000483041.5:n.975G>A
ENST00000486063.5:n.918+237G>A
NM_000500.7:c.806G>A	NP_000491.4:p.Ser269Asn
NM_001128590.3:c.716G>A	NP_001122062.3:p.Ser239Asn
XM_011514314.1:c.401G>A	XP_011512616.1:p.Ser134Asn
NM_000500.9:c.806G>A MANE Select	NP_000491.4:p.Ser269Asn
NM_001368143.1:c.401G>A	NP_001355072.1:p.Ser134Asn
NM_001368144.1:c.401G>A	NP_001355073.1:p.Ser134Asn
NM_001128590.4:c.716G>A	NP_001122062.3:p.Ser239Asn
NM_001368143.2:c.401G>A	NP_001355072.1:p.Ser134Asn
NM_001368144.2:c.401G>A	NP_001355073.1:p.Ser134Asn