Canonical Allele Identifier: CA363501778

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1455016253
• gnomAD v2: 6-32006997-T-C
• gnomAD v4: 6-32039220-T-C
• MyVariant Identifiers: chr6:g.32006997T>C (hg19) ; chr6:g.32039220T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039220T>C , CM000668.2:g.32039220T>C	GRCh38
NC_000006.11:g.32006997T>C , CM000668.1:g.32006997T>C	GRCh37
NC_000006.10:g.32114976T>C	NCBI36
NG_007941.2:g.5913T>C
NG_008337.2:g.75155A>G
NG_007941.3:g.5916T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.419T>C MANE Select	ENSP00000496625.1:p.Val140Ala
ENST00000418967.6:c.419T>C	ENSP00000408860.2:p.Val140Ala
ENST00000435122.3:c.329T>C	ENSP00000415043.2:p.Val110Ala
ENST00000462278.1:n.7T>C
ENST00000464325.5:n.340T>C
ENST00000466779.5:c.*111T>C	ENSP00000417321.1:n.*111T>C
ENST00000466879.5:n.470T>C
ENST00000469053.5:c.*111T>C	ENSP00000418104.1:n.*111T>C
ENST00000471671.4:c.419T>C	ENSP00000418561.1:p.Val140Ala
ENST00000478281.5:c.452T>C	ENSP00000419572.1:p.Val151Ala
ENST00000479074.5:n.477T>C
ENST00000479730.5:n.574T>C
ENST00000483041.5:n.588T>C
ENST00000486063.5:n.599T>C
ENST00000488465.1:n.427T>C
NM_000500.7:c.419T>C	NP_000491.4:p.Val140Ala
NM_001128590.3:c.329T>C	NP_001122062.3:p.Val110Ala
XM_011514314.1:c.14T>C	XP_011512616.1:p.Val5Ala
NM_000500.9:c.419T>C MANE Select	NP_000491.4:p.Val140Ala
NM_001368143.1:c.14T>C	NP_001355072.1:p.Val5Ala
NM_001368144.1:c.14T>C	NP_001355073.1:p.Val5Ala
NM_001128590.4:c.329T>C	NP_001122062.3:p.Val110Ala
NM_001368143.2:c.14T>C	NP_001355072.1:p.Val5Ala
NM_001368144.2:c.14T>C	NP_001355073.1:p.Val5Ala