Canonical Allele Identifier: CA363511475

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 2577310
• ClinVar RCV Id: RCV003324387
• dbSNP Id: rs1776264899
• MyVariant Identifiers: chr6:g.32008539T>C (hg19) ; chr6:g.32040762T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040762T>C , CM000668.2:g.32040762T>C	GRCh38
NC_000006.11:g.32008539T>C , CM000668.1:g.32008539T>C	GRCh37
NC_000006.10:g.32116518T>C	NCBI36
NG_007941.2:g.7455T>C
NG_008337.2:g.73613A>G
NG_007941.3:g.7458T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1213T>C MANE Select	ENSP00000496625.1:p.Phe405Leu
ENST00000418967.6:c.1213T>C	ENSP00000408860.2:p.Phe405Leu
ENST00000435122.3:c.1123T>C	ENSP00000415043.2:p.Phe375Leu
ENST00000479074.5:n.1354T>C
ENST00000479730.5:n.1329T>C
ENST00000483041.5:n.1382T>C
ENST00000486063.5:n.1192T>C
NM_000500.7:c.1213T>C	NP_000491.4:p.Phe405Leu
NM_001128590.3:c.1123T>C	NP_001122062.3:p.Phe375Leu
XM_011514314.1:c.808T>C	XP_011512616.1:p.Phe270Leu
NM_000500.9:c.1213T>C MANE Select	NP_000491.4:p.Phe405Leu
NM_001368143.1:c.808T>C	NP_001355072.1:p.Phe270Leu
NM_001368144.1:c.808T>C	NP_001355073.1:p.Phe270Leu
NM_001128590.4:c.1123T>C	NP_001122062.3:p.Phe375Leu
NM_001368143.2:c.808T>C	NP_001355072.1:p.Phe270Leu
NM_001368144.2:c.808T>C	NP_001355073.1:p.Phe270Leu