Canonical Allele Identifier: CA3732616

Gene: CYP21A2

Linked Data

• dbSNP Id: rs747079101
• ExAC: 6:32008268 G / A
• gnomAD v2: 6-32008268-G-A
• gnomAD v3: 6-32040491-G-A
• gnomAD v4: 6-32040491-G-A
• COSMIC: COSM5870252
• MyVariant Identifiers: chr6:g.32008268G>A (hg19) ; chr6:g.32040491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040491G>A , CM000668.2:g.32040491G>A	GRCh38
NC_000006.11:g.32008268G>A , CM000668.1:g.32008268G>A	GRCh37
NC_000006.10:g.32116247G>A	NCBI36
NG_007941.2:g.7184G>A
NG_008337.2:g.73884C>T
NG_007941.3:g.7187G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1025G>A MANE Select	ENSP00000496625.1:p.Arg342Gln
ENST00000418967.6:c.1025G>A	ENSP00000408860.2:p.Arg342Gln
ENST00000435122.3:c.935G>A	ENSP00000415043.2:p.Arg312Gln
ENST00000479074.5:n.1083G>A
ENST00000479730.5:n.1141G>A
ENST00000483041.5:n.1194G>A
ENST00000486063.5:n.1004G>A
NM_000500.7:c.1025G>A	NP_000491.4:p.Arg342Gln
NM_001128590.3:c.935G>A	NP_001122062.3:p.Arg312Gln
XM_011514314.1:c.620G>A	XP_011512616.1:p.Arg207Gln
NM_000500.9:c.1025G>A MANE Select	NP_000491.4:p.Arg342Gln
NM_001368143.1:c.620G>A	NP_001355072.1:p.Arg207Gln
NM_001368144.1:c.620G>A	NP_001355073.1:p.Arg207Gln
NM_001128590.4:c.935G>A	NP_001122062.3:p.Arg312Gln
NM_001368143.2:c.620G>A	NP_001355072.1:p.Arg207Gln
NM_001368144.2:c.620G>A	NP_001355073.1:p.Arg207Gln