Canonical Allele Identifier: CA449729024

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1158387135
• gnomAD v2: 6-32006998-G-A
• gnomAD v4: 6-32039221-G-A
• COSMIC: COSM3624989
• MyVariant Identifiers: chr6:g.32006998G>A (hg19) ; chr6:g.32039221G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039221G>A , CM000668.2:g.32039221G>A	GRCh38
NC_000006.11:g.32006998G>A , CM000668.1:g.32006998G>A	GRCh37
NC_000006.10:g.32114977G>A	NCBI36
NG_007941.2:g.5914G>A
NG_008337.2:g.75154C>T
NG_007941.3:g.5917G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.420G>A MANE Select	ENSP00000496625.1:p.Val140=
ENST00000418967.6:c.420G>A	ENSP00000408860.2:p.Val140=
ENST00000435122.3:c.330G>A	ENSP00000415043.2:p.Val110=
ENST00000462278.1:n.8G>A
ENST00000464325.5:n.341G>A
ENST00000466779.5:c.*112G>A	ENSP00000417321.1:n.*112G>A
ENST00000466879.5:n.471G>A
ENST00000469053.5:c.*112G>A	ENSP00000418104.1:n.*112G>A
ENST00000471671.4:c.420G>A	ENSP00000418561.1:p.Val140=
ENST00000478281.5:c.453G>A	ENSP00000419572.1:p.Val151=
ENST00000479074.5:n.478G>A
ENST00000479730.5:n.575G>A
ENST00000483041.5:n.589G>A
ENST00000486063.5:n.600G>A
ENST00000488465.1:n.428G>A
NM_000500.7:c.420G>A	NP_000491.4:p.Val140=
NM_001128590.3:c.330G>A	NP_001122062.3:p.Val110=
XM_011514314.1:c.15G>A	XP_011512616.1:p.Val5=
NM_000500.9:c.420G>A MANE Select	NP_000491.4:p.Val140=
NM_001368143.1:c.15G>A	NP_001355072.1:p.Val5=
NM_001368144.1:c.15G>A	NP_001355073.1:p.Val5=
NM_001128590.4:c.330G>A	NP_001122062.3:p.Val110=
NM_001368143.2:c.15G>A	NP_001355072.1:p.Val5=
NM_001368144.2:c.15G>A	NP_001355073.1:p.Val5=