Canonical Allele Identifier: CA3732362

Gene: CYP21A2

Linked Data

• dbSNP Id: rs771505510
• ExAC: 6:32006875 G / C
• gnomAD v2: 6-32006875-G-C
• gnomAD v4: 6-32039098-G-C
• MyVariant Identifiers: chr6:g.32006875G>C (hg19) ; chr6:g.32039098G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039098G>C , CM000668.2:g.32039098G>C	GRCh38
NC_000006.11:g.32006875G>C , CM000668.1:g.32006875G>C	GRCh37
NC_000006.10:g.32114854G>C	NCBI36
NG_007941.2:g.5791G>C
NG_007941.3:g.5794G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.297G>C MANE Select	ENSP00000496625.1:p.Lys99Asn
ENST00000418967.6:c.297G>C	ENSP00000408860.2:p.Lys99Asn
ENST00000435122.3:c.207G>C	ENSP00000415043.2:p.Lys69Asn
ENST00000464325.5:n.230-12G>C
ENST00000466779.5:c.316G>C	ENSP00000417321.1:p.Ala106Pro
ENST00000466879.5:n.348G>C
ENST00000469053.5:c.226G>C	ENSP00000418104.1:p.Ala76Pro
ENST00000471671.4:c.297G>C	ENSP00000418561.1:p.Lys99Asn
ENST00000478281.5:c.330G>C	ENSP00000419572.1:p.Lys110Asn
ENST00000479074.5:n.355G>C
ENST00000479730.5:n.452G>C
ENST00000480027.1:n.632G>C
ENST00000483041.5:n.466G>C
ENST00000486063.5:n.477G>C
ENST00000488465.1:n.305G>C
NM_000500.7:c.297G>C	NP_000491.4:p.Lys99Asn
NM_001128590.3:c.207G>C	NP_001122062.3:p.Lys69Asn
XM_011514314.1:c.-109G>C	XP_011512616.1:n.-109G>C
NM_000500.9:c.297G>C MANE Select	NP_000491.4:p.Lys99Asn
NM_001368143.1:c.-109G>C	NP_001355072.1:n.-109G>C
NM_001368144.1:c.-109G>C	NP_001355073.1:n.-109G>C
NM_001128590.4:c.207G>C	NP_001122062.3:p.Lys69Asn
NM_001368143.2:c.-109G>C	NP_001355072.1:n.-109G>C
NM_001368144.2:c.-109G>C	NP_001355073.1:n.-109G>C