Canonical Allele Identifier: CA1619397274

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040014G= , CM000668.2:g.32040014G=	GRCh38
NC_000006.11:g.32007791G= , CM000668.1:g.32007791G=	GRCh37
NC_000006.10:g.32115770G=	NCBI36
NG_007941.2:g.6707G=
NG_008337.2:g.74361C=
NG_007941.3:g.6710G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.748G= MANE Select	ENSP00000496625.1:p.Val250=
ENST00000418967.6:c.748G=	ENSP00000408860.2:p.Val250=
ENST00000435122.3:c.658G=	ENSP00000415043.2:p.Val220=
ENST00000479074.5:n.806G=
ENST00000479730.5:n.864G=
ENST00000483041.5:n.917G=
ENST00000486063.5:n.918+179G=
NM_000500.7:c.748G=	NP_000491.4:p.Val250=
NM_001128590.3:c.658G=	NP_001122062.3:p.Val220=
XM_011514314.1:c.343G=	XP_011512616.1:p.Val115=
NM_000500.9:c.748G= MANE Select	NP_000491.4:p.Val250=
NM_001368143.1:c.343G=	NP_001355072.1:p.Val115=
NM_001368144.1:c.343G=	NP_001355073.1:p.Val115=
NM_001128590.4:c.658G=	NP_001122062.3:p.Val220=
NM_001368143.2:c.343G=	NP_001355072.1:p.Val115=
NM_001368144.2:c.343G=	NP_001355073.1:p.Val115=