Canonical Allele Identifier: CA136893931

Gene: CYP21A2

Linked Data

• dbSNP Id: rs907607267
• gnomAD v2: 6-32006995-G-A
• gnomAD v3: 6-32039218-G-A
• gnomAD v4: 6-32039218-G-A
• MyVariant Identifiers: chr6:g.32006995G>A (hg19) ; chr6:g.32039218G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039218G>A , CM000668.2:g.32039218G>A	GRCh38
NC_000006.11:g.32006995G>A , CM000668.1:g.32006995G>A	GRCh37
NC_000006.10:g.32114974G>A	NCBI36
NG_007941.2:g.5911G>A
NG_008337.2:g.75157C>T
NG_007941.3:g.5914G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.417G>A MANE Select	ENSP00000496625.1:p.Val139=
ENST00000418967.6:c.417G>A	ENSP00000408860.2:p.Val139=
ENST00000435122.3:c.327G>A	ENSP00000415043.2:p.Val109=
ENST00000462278.1:n.5G>A
ENST00000464325.5:n.338G>A
ENST00000466779.5:c.*109G>A	ENSP00000417321.1:n.*109G>A
ENST00000466879.5:n.468G>A
ENST00000469053.5:c.*109G>A	ENSP00000418104.1:n.*109G>A
ENST00000471671.4:c.417G>A	ENSP00000418561.1:p.Val139=
ENST00000478281.5:c.450G>A	ENSP00000419572.1:p.Val150=
ENST00000479074.5:n.475G>A
ENST00000479730.5:n.572G>A
ENST00000483041.5:n.586G>A
ENST00000486063.5:n.597G>A
ENST00000488465.1:n.425G>A
NM_000500.7:c.417G>A	NP_000491.4:p.Val139=
NM_001128590.3:c.327G>A	NP_001122062.3:p.Val109=
XM_011514314.1:c.12G>A	XP_011512616.1:p.Val4=
NM_000500.9:c.417G>A MANE Select	NP_000491.4:p.Val139=
NM_001368143.1:c.12G>A	NP_001355072.1:p.Val4=
NM_001368144.1:c.12G>A	NP_001355073.1:p.Val4=
NM_001128590.4:c.327G>A	NP_001122062.3:p.Val109=
NM_001368143.2:c.12G>A	NP_001355072.1:p.Val4=
NM_001368144.2:c.12G>A	NP_001355073.1:p.Val4=