Canonical Allele Identifier: CA449729002

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1375938872
• gnomAD v2: 6-32006992-A-T
• gnomAD v3: 6-32039215-A-T
• gnomAD v4: 6-32039215-A-T
• MyVariant Identifiers: chr6:g.32006992A>T (hg19) ; chr6:g.32039215A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039215A>T , CM000668.2:g.32039215A>T	GRCh38
NC_000006.11:g.32006992A>T , CM000668.1:g.32006992A>T	GRCh37
NC_000006.10:g.32114971A>T	NCBI36
NG_007941.2:g.5908A>T
NG_008337.2:g.75160T>A
NG_007941.3:g.5911A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.414A>T MANE Select	ENSP00000496625.1:p.Pro138=
ENST00000418967.6:c.414A>T	ENSP00000408860.2:p.Pro138=
ENST00000435122.3:c.324A>T	ENSP00000415043.2:p.Pro108=
ENST00000462278.1:n.2A>T
ENST00000464325.5:n.335A>T
ENST00000466779.5:c.*106A>T	ENSP00000417321.1:n.*106A>T
ENST00000466879.5:n.465A>T
ENST00000469053.5:c.*106A>T	ENSP00000418104.1:n.*106A>T
ENST00000471671.4:c.414A>T	ENSP00000418561.1:p.Pro138=
ENST00000478281.5:c.447A>T	ENSP00000419572.1:p.Pro149=
ENST00000479074.5:n.472A>T
ENST00000479730.5:n.569A>T
ENST00000483041.5:n.583A>T
ENST00000486063.5:n.594A>T
ENST00000488465.1:n.422A>T
NM_000500.7:c.414A>T	NP_000491.4:p.Pro138=
NM_001128590.3:c.324A>T	NP_001122062.3:p.Pro108=
XM_011514314.1:c.9A>T	XP_011512616.1:p.Pro3=
NM_000500.9:c.414A>T MANE Select	NP_000491.4:p.Pro138=
NM_001368143.1:c.9A>T	NP_001355072.1:p.Pro3=
NM_001368144.1:c.9A>T	NP_001355073.1:p.Pro3=
NM_001128590.4:c.324A>T	NP_001122062.3:p.Pro108=
NM_001368143.2:c.9A>T	NP_001355072.1:p.Pro3=
NM_001368144.2:c.9A>T	NP_001355073.1:p.Pro3=