Canonical Allele Identifier: CA449818901

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1286442026
• gnomAD v2: 6-32008475-A-G
• gnomAD v4: 6-32040698-A-G
• MyVariant Identifiers: chr6:g.32008475A>G (hg19) ; chr6:g.32040698A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040698A>G , CM000668.2:g.32040698A>G	GRCh38
NC_000006.11:g.32008475A>G , CM000668.1:g.32008475A>G	GRCh37
NC_000006.10:g.32116454A>G	NCBI36
NG_007941.2:g.7391A>G
NG_008337.2:g.73677T>C
NG_007941.3:g.7394A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1149A>G MANE Select	ENSP00000496625.1:p.Thr383=
ENST00000418967.6:c.1149A>G	ENSP00000408860.2:p.Thr383=
ENST00000435122.3:c.1059A>G	ENSP00000415043.2:p.Thr353=
ENST00000479074.5:n.1290A>G
ENST00000479730.5:n.1265A>G
ENST00000483041.5:n.1318A>G
ENST00000486063.5:n.1128A>G
NM_000500.7:c.1149A>G	NP_000491.4:p.Thr383=
NM_001128590.3:c.1059A>G	NP_001122062.3:p.Thr353=
XM_011514314.1:c.744A>G	XP_011512616.1:p.Thr248=
NM_000500.9:c.1149A>G MANE Select	NP_000491.4:p.Thr383=
NM_001368143.1:c.744A>G	NP_001355072.1:p.Thr248=
NM_001368144.1:c.744A>G	NP_001355073.1:p.Thr248=
NM_001128590.4:c.1059A>G	NP_001122062.3:p.Thr353=
NM_001368143.2:c.744A>G	NP_001355072.1:p.Thr248=
NM_001368144.2:c.744A>G	NP_001355073.1:p.Thr248=