Canonical Allele Identifier: CA3732596

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 1174727
• ClinVar RCV Id: RCV001528611
• dbSNP Id: rs748290896
• ExAC: 6:32008192 C / T
• gnomAD v2: 6-32008192-C-T
• gnomAD v4: 6-32040415-C-T
• MyVariant Identifiers: chr6:g.32008192C>T (hg19) ; chr6:g.32040415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040415C>T , CM000668.2:g.32040415C>T	GRCh38
NC_000006.11:g.32008192C>T , CM000668.1:g.32008192C>T	GRCh37
NC_000006.10:g.32116171C>T	NCBI36
NG_007941.2:g.7108C>T
NG_008337.2:g.73960G>A
NG_007941.3:g.7111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.949C>T MANE Select	ENSP00000496625.1:p.Arg317Ter
ENST00000418967.6:c.949C>T	ENSP00000408860.2:p.Arg317Ter
ENST00000435122.3:c.859C>T	ENSP00000415043.2:p.Arg287Ter
ENST00000479074.5:n.1007C>T
ENST00000479730.5:n.1065C>T
ENST00000483041.5:n.1118C>T
ENST00000486063.5:n.928C>T
NM_000500.7:c.949C>T	NP_000491.4:p.Arg317Ter
NM_001128590.3:c.859C>T	NP_001122062.3:p.Arg287Ter
XM_011514314.1:c.544C>T	XP_011512616.1:p.Arg182Ter
NM_000500.9:c.949C>T MANE Select	NP_000491.4:p.Arg317Ter
NM_001368143.1:c.544C>T	NP_001355072.1:p.Arg182Ter
NM_001368144.1:c.544C>T	NP_001355073.1:p.Arg182Ter
NM_001128590.4:c.859C>T	NP_001122062.3:p.Arg287Ter
NM_001368143.2:c.544C>T	NP_001355072.1:p.Arg182Ter
NM_001368144.2:c.544C>T	NP_001355073.1:p.Arg182Ter