Canonical Allele Identifier: CA363505820

Gene: CYP21A2

Linked Data

• dbSNP Id: rs182942340
• MyVariant Identifiers: chr6:g.32007797G>C (hg19) ; chr6:g.32040020G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040020G>C , CM000668.2:g.32040020G>C	GRCh38
NC_000006.11:g.32007797G>C , CM000668.1:g.32007797G>C	GRCh37
NC_000006.10:g.32115776G>C	NCBI36
NG_007941.2:g.6713G>C
NG_008337.2:g.74355C>G
NG_007941.3:g.6716G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.754G>C MANE Select	ENSP00000496625.1:p.Gly252Arg
ENST00000418967.6:c.754G>C	ENSP00000408860.2:p.Gly252Arg
ENST00000435122.3:c.664G>C	ENSP00000415043.2:p.Gly222Arg
ENST00000479074.5:n.812G>C
ENST00000479730.5:n.870G>C
ENST00000483041.5:n.923G>C
ENST00000486063.5:n.918+185G>C
NM_000500.7:c.754G>C	NP_000491.4:p.Gly252Arg
NM_001128590.3:c.664G>C	NP_001122062.3:p.Gly222Arg
XM_011514314.1:c.349G>C	XP_011512616.1:p.Gly117Arg
NM_000500.9:c.754G>C MANE Select	NP_000491.4:p.Gly252Arg
NM_001368143.1:c.349G>C	NP_001355072.1:p.Gly117Arg
NM_001368144.1:c.349G>C	NP_001355073.1:p.Gly117Arg
NM_001128590.4:c.664G>C	NP_001122062.3:p.Gly222Arg
NM_001368143.2:c.349G>C	NP_001355072.1:p.Gly117Arg
NM_001368144.2:c.349G>C	NP_001355073.1:p.Gly117Arg