Canonical Allele Identifier: CA3732541

Gene: CYP21A2

Linked Data

• dbSNP Id: rs750337015
• ExAC: 6:32007828 T / C
• gnomAD v2: 6-32007828-T-C
• gnomAD v4: 6-32040051-T-C
• MyVariant Identifiers: chr6:g.32007828T>C (hg19) ; chr6:g.32040051T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040051T>C , CM000668.2:g.32040051T>C	GRCh38
NC_000006.11:g.32007828T>C , CM000668.1:g.32007828T>C	GRCh37
NC_000006.10:g.32115807T>C	NCBI36
NG_007941.2:g.6744T>C
NG_008337.2:g.74324A>G
NG_007941.3:g.6747T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.785T>C MANE Select	ENSP00000496625.1:p.Leu262Pro
ENST00000418967.6:c.785T>C	ENSP00000408860.2:p.Leu262Pro
ENST00000435122.3:c.695T>C	ENSP00000415043.2:p.Leu232Pro
ENST00000479074.5:n.843T>C
ENST00000479730.5:n.901T>C
ENST00000483041.5:n.954T>C
ENST00000486063.5:n.918+216T>C
NM_000500.7:c.785T>C	NP_000491.4:p.Leu262Pro
NM_001128590.3:c.695T>C	NP_001122062.3:p.Leu232Pro
XM_011514314.1:c.380T>C	XP_011512616.1:p.Leu127Pro
NM_000500.9:c.785T>C MANE Select	NP_000491.4:p.Leu262Pro
NM_001368143.1:c.380T>C	NP_001355072.1:p.Leu127Pro
NM_001368144.1:c.380T>C	NP_001355073.1:p.Leu127Pro
NM_001128590.4:c.695T>C	NP_001122062.3:p.Leu232Pro
NM_001368143.2:c.380T>C	NP_001355072.1:p.Leu127Pro
NM_001368144.2:c.380T>C	NP_001355073.1:p.Leu127Pro