Canonical Allele Identifier: CA449818580

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007418T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039641T>C , CM000668.2:g.32039641T>C	GRCh38
NC_000006.11:g.32007418T>C , CM000668.1:g.32007418T>C	GRCh37
NC_000006.10:g.32115397T>C	NCBI36
NG_007941.2:g.6334T>C
NG_008337.2:g.74734A>G
NG_007941.3:g.6337T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.645T>C MANE Select	ENSP00000496625.1:p.Phe215=
ENST00000418967.6:c.645T>C	ENSP00000408860.2:p.Phe215=
ENST00000435122.3:c.555T>C	ENSP00000415043.2:p.Phe185=
ENST00000462278.1:n.233T>C
ENST00000464325.5:n.566T>C
ENST00000466779.5:c.*337T>C	ENSP00000417321.1:n.*337T>C
ENST00000466879.5:n.696T>C
ENST00000479074.5:n.703T>C
ENST00000479730.5:n.761T>C
ENST00000483041.5:n.814T>C
ENST00000486063.5:n.825T>C
NM_000500.7:c.645T>C	NP_000491.4:p.Phe215=
NM_001128590.3:c.555T>C	NP_001122062.3:p.Phe185=
XM_011514314.1:c.240T>C	XP_011512616.1:p.Phe80=
NM_000500.9:c.645T>C MANE Select	NP_000491.4:p.Phe215=
NM_001368143.1:c.240T>C	NP_001355072.1:p.Phe80=
NM_001368144.1:c.240T>C	NP_001355073.1:p.Phe80=
NM_001128590.4:c.555T>C	NP_001122062.3:p.Phe185=
NM_001368143.2:c.240T>C	NP_001355072.1:p.Phe80=
NM_001368144.2:c.240T>C	NP_001355073.1:p.Phe80=