Canonical Allele Identifier: CA449729178

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1237182428
• gnomAD v2: 6-32007147-G-A
• MyVariant Identifiers: chr6:g.32007147G>A (hg19) ; chr6:g.32039370G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039370G>A , CM000668.2:g.32039370G>A	GRCh38
NC_000006.11:g.32007147G>A , CM000668.1:g.32007147G>A	GRCh37
NC_000006.10:g.32115126G>A	NCBI36
NG_007941.2:g.6063G>A
NG_008337.2:g.75005C>T
NG_007941.3:g.6066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.462G>A MANE Select	ENSP00000496625.1:p.Gln154=
ENST00000418967.6:c.462G>A	ENSP00000408860.2:p.Gln154=
ENST00000435122.3:c.372G>A	ENSP00000415043.2:p.Gln124=
ENST00000462278.1:n.50G>A
ENST00000464325.5:n.383G>A
ENST00000466779.5:c.*154G>A	ENSP00000417321.1:n.*154G>A
ENST00000466879.5:n.513G>A
ENST00000469053.5:c.*154G>A	ENSP00000418104.1:n.*154G>A
ENST00000471671.4:c.462G>A	ENSP00000418561.1:p.Gln154=
ENST00000478281.5:c.495G>A	ENSP00000419572.1:p.Gln165=
ENST00000479074.5:n.520G>A
ENST00000479730.5:n.617G>A
ENST00000483041.5:n.631G>A
ENST00000486063.5:n.642G>A
ENST00000488465.1:n.470G>A
NM_000500.7:c.462G>A	NP_000491.4:p.Gln154=
NM_001128590.3:c.372G>A	NP_001122062.3:p.Gln124=
XM_011514314.1:c.57G>A	XP_011512616.1:p.Gln19=
NM_000500.9:c.462G>A MANE Select	NP_000491.4:p.Gln154=
NM_001368143.1:c.57G>A	NP_001355072.1:p.Gln19=
NM_001368144.1:c.57G>A	NP_001355073.1:p.Gln19=
NM_001128590.4:c.372G>A	NP_001122062.3:p.Gln124=
NM_001368143.2:c.57G>A	NP_001355072.1:p.Gln19=
NM_001368144.2:c.57G>A	NP_001355073.1:p.Gln19=