Canonical Allele Identifier: CA3732615

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 1422248
• ClinVar RCV Id: RCV001919442 ; RCV003978421
• dbSNP Id: rs72552755
• ExAC: 6:32008267 C / T
• gnomAD v2: 6-32008267-C-T
• gnomAD v3: 6-32040490-C-T
• gnomAD v4: 6-32040490-C-T
• COSMIC: COSM1131914
• MyVariant Identifiers: chr6:g.32008267C>T (hg19) ; chr6:g.32040490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040490C>T , CM000668.2:g.32040490C>T	GRCh38
NC_000006.11:g.32008267C>T , CM000668.1:g.32008267C>T	GRCh37
NC_000006.10:g.32116246C>T	NCBI36
NG_007941.2:g.7183C>T
NG_008337.2:g.73885G>A
NG_007941.3:g.7186C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1024C>T MANE Select	ENSP00000496625.1:p.Arg342Trp
ENST00000418967.6:c.1024C>T	ENSP00000408860.2:p.Arg342Trp
ENST00000435122.3:c.934C>T	ENSP00000415043.2:p.Arg312Trp
ENST00000479074.5:n.1082C>T
ENST00000479730.5:n.1140C>T
ENST00000483041.5:n.1193C>T
ENST00000486063.5:n.1003C>T
NM_000500.7:c.1024C>T	NP_000491.4:p.Arg342Trp
NM_001128590.3:c.934C>T	NP_001122062.3:p.Arg312Trp
XM_011514314.1:c.619C>T	XP_011512616.1:p.Arg207Trp
NM_000500.9:c.1024C>T MANE Select	NP_000491.4:p.Arg342Trp
NM_001368143.1:c.619C>T	NP_001355072.1:p.Arg207Trp
NM_001368144.1:c.619C>T	NP_001355073.1:p.Arg207Trp
NM_001128590.4:c.934C>T	NP_001122062.3:p.Arg312Trp
NM_001368143.2:c.619C>T	NP_001355072.1:p.Arg207Trp
NM_001368144.2:c.619C>T	NP_001355073.1:p.Arg207Trp