Canonical Allele Identifier: CA449818666

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007601A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039824A>C , CM000668.2:g.32039824A>C	GRCh38
NC_000006.11:g.32007601A>C , CM000668.1:g.32007601A>C	GRCh37
NC_000006.10:g.32115580A>C	NCBI36
NG_007941.2:g.6517A>C
NG_008337.2:g.74551T>G
NG_007941.3:g.6520A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.727A>C MANE Select	ENSP00000496625.1:p.Arg243=
ENST00000418967.6:c.727A>C	ENSP00000408860.2:p.Arg243=
ENST00000435122.3:c.637A>C	ENSP00000415043.2:p.Arg213=
ENST00000462278.1:n.416A>C
ENST00000466779.5:c.*419A>C	ENSP00000417321.1:n.*419A>C
ENST00000479074.5:n.785A>C
ENST00000479730.5:n.843A>C
ENST00000483041.5:n.896A>C
ENST00000486063.5:n.907A>C
NM_000500.7:c.727A>C	NP_000491.4:p.Arg243=
NM_001128590.3:c.637A>C	NP_001122062.3:p.Arg213=
XM_011514314.1:c.322A>C	XP_011512616.1:p.Arg108=
NM_000500.9:c.727A>C MANE Select	NP_000491.4:p.Arg243=
NM_001368143.1:c.322A>C	NP_001355072.1:p.Arg108=
NM_001368144.1:c.322A>C	NP_001355073.1:p.Arg108=
NM_001128590.4:c.637A>C	NP_001122062.3:p.Arg213=
NM_001368143.2:c.322A>C	NP_001355072.1:p.Arg108=
NM_001368144.2:c.322A>C	NP_001355073.1:p.Arg108=