Canonical Allele Identifier: CA2678088560

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039695-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039695G>A , CM000668.2:g.32039695G>A	GRCh38
NC_000006.11:g.32007472G>A , CM000668.1:g.32007472G>A	GRCh37
NC_000006.10:g.32115451G>A	NCBI36
NG_007941.2:g.6388G>A
NG_008337.2:g.74680C>T
NG_007941.3:g.6391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.651+48G>A MANE Select	ENSP00000496625.1:n.651+48G>A
ENST00000418967.6:c.651+48G>A	ENSP00000408860.2:n.651+48G>A
ENST00000435122.3:c.561+48G>A	ENSP00000415043.2:n.561+48G>A
ENST00000462278.1:n.287G>A
ENST00000464325.5:n.572+48G>A
ENST00000466779.5:c.*343+48G>A	ENSP00000417321.1:n.*343+48G>A
ENST00000466879.5:n.702+48G>A
ENST00000479074.5:n.709+48G>A
ENST00000479730.5:n.767+48G>A
ENST00000483041.5:n.820+48G>A
ENST00000486063.5:n.831+48G>A
NM_000500.7:c.651+48G>A	NP_000491.4:n.651+48G>A
NM_001128590.3:c.561+48G>A	NP_001122062.3:n.561+48G>A
XM_011514314.1:c.246+48G>A	XP_011512616.1:n.246+48G>A
NM_000500.9:c.651+48G>A MANE Select	NP_000491.4:n.651+48G>A
NM_001368143.1:c.246+48G>A	NP_001355072.1:n.246+48G>A
NM_001368144.1:c.246+48G>A	NP_001355073.1:n.246+48G>A
NM_001128590.4:c.561+48G>A	NP_001122062.3:n.561+48G>A
NM_001368143.2:c.246+48G>A	NP_001355072.1:n.246+48G>A
NM_001368144.2:c.246+48G>A	NP_001355073.1:n.246+48G>A