Canonical Allele Identifier: CA363503106

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 426602
• ClinVar RCV Id: RCV000489627
• dbSNP Id: rs779166970
• MyVariant Identifiers: chr6:g.32007212T>C (hg19) ; chr6:g.32039435T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039435T>C , CM000668.2:g.32039435T>C	GRCh38
NC_000006.11:g.32007212T>C , CM000668.1:g.32007212T>C	GRCh37
NC_000006.10:g.32115191T>C	NCBI36
NG_007941.2:g.6128T>C
NG_008337.2:g.74940A>G
NG_007941.3:g.6131T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.527T>C MANE Select	ENSP00000496625.1:p.Leu176Pro
ENST00000418967.6:c.527T>C	ENSP00000408860.2:p.Leu176Pro
ENST00000435122.3:c.437T>C	ENSP00000415043.2:p.Leu146Pro
ENST00000462278.1:n.115T>C
ENST00000464325.5:n.448T>C
ENST00000466779.5:c.*219T>C	ENSP00000417321.1:n.*219T>C
ENST00000466879.5:n.578T>C
ENST00000469053.5:c.*219T>C	ENSP00000418104.1:n.*219T>C
ENST00000471671.4:c.527T>C	ENSP00000418561.1:p.Leu176Pro
ENST00000479074.5:n.585T>C
ENST00000479730.5:n.682T>C
ENST00000483041.5:n.696T>C
ENST00000486063.5:n.707T>C
ENST00000488465.1:n.535T>C
NM_000500.7:c.527T>C	NP_000491.4:p.Leu176Pro
NM_001128590.3:c.437T>C	NP_001122062.3:p.Leu146Pro
XM_011514314.1:c.122T>C	XP_011512616.1:p.Leu41Pro
NM_000500.9:c.527T>C MANE Select	NP_000491.4:p.Leu176Pro
NM_001368143.1:c.122T>C	NP_001355072.1:p.Leu41Pro
NM_001368144.1:c.122T>C	NP_001355073.1:p.Leu41Pro
NM_001128590.4:c.437T>C	NP_001122062.3:p.Leu146Pro
NM_001368143.2:c.122T>C	NP_001355072.1:p.Leu41Pro
NM_001368144.2:c.122T>C	NP_001355073.1:p.Leu41Pro