Canonical Allele Identifier: CA358448

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.[32039807T>A;32039810T>A;32039816T>A] , CM000668.2:g.[32039807T>A;32039810T>A;32039816T>A]	GRCh38
NC_000006.11:g.[32007584T>A;32007587T>A;32007593T>A] , CM000668.1:g.[32007584T>A;32007587T>A;32007593T>A]	GRCh37
NC_000006.10:g.[32115563T>A;32115566T>A;32115572T>A]	NCBI36
NG_007941.2:g.[6500T>A;6503T>A;6509T>A]
NG_008337.2:g.[74559A>T;74565A>T;74568A>T]
NG_007941.3:g.[6503T>A;6506T>A;6512T>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.[710T>A;713T>A;719T>A] MANE Select	ENSP00000496625.1:p.[Ile237Asn;Val238Glu;Met240Lys]
ENST00000418967.6:c.[710T>A;713T>A;719T>A]	ENSP00000408860.2:p.[Ile237Asn;Val238Glu;Met240Lys]
ENST00000435122.3:c.[620T>A;623T>A;629T>A]	ENSP00000415043.2:p.[Ile207Asn;Val208Glu;Met210Lys]
ENST00000462278.1:n.[399T>A;402T>A;408T>A]
ENST00000466779.5:c.[*402T>A;*405T>A;*411T>A]	ENSP00000417321.1:n.[*402T>A;*405T>A;*411T>A]
ENST00000466879.5:n.[761T>A;764T>A;770T>A]
ENST00000479074.5:n.[768T>A;771T>A;777T>A]
ENST00000479730.5:n.[826T>A;829T>A;835T>A]
ENST00000483041.5:n.[879T>A;882T>A;888T>A]
ENST00000486063.5:n.[890T>A;893T>A;899T>A]
NM_000500.7:c.[710T>A;713T>A;719T>A]	NP_000491.4:p.[Ile237Asn;Val238Glu;Met240Lys]
NM_001128590.3:c.[620T>A;623T>A;629T>A]	NP_001122062.3:p.[Ile207Asn;Val208Glu;Met210Lys]
XM_011514314.1:c.[305T>A;308T>A;314T>A]	XP_011512616.1:p.[Ile102Asn;Val103Glu;Met105Lys]
NM_000500.9:c.[710T>A;713T>A;719T>A] MANE Select	NP_000491.4:p.[Ile237Asn;Val238Glu;Met240Lys]
NM_001368143.1:c.[305T>A;308T>A;314T>A]	NP_001355072.1:p.[Ile102Asn;Val103Glu;Met105Lys]
NM_001368144.1:c.[305T>A;308T>A;314T>A]	NP_001355073.1:p.[Ile102Asn;Val103Glu;Met105Lys]
NM_001128590.4:c.[620T>A;623T>A;629T>A]	NP_001122062.3:p.[Ile207Asn;Val208Glu;Met210Lys]
NM_001368143.2:c.[305T>A;308T>A;314T>A]	NP_001355072.1:p.[Ile102Asn;Val103Glu;Met105Lys]
NM_001368144.2:c.[305T>A;308T>A;314T>A]	NP_001355073.1:p.[Ile102Asn;Val103Glu;Met105Lys]