Canonical Allele Identifier: CA3732658

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 2635968
• ClinVar RCV Id: RCV003419233
• dbSNP Id: rs546660952
• ExAC: 6:32008486 C / T
• gnomAD v2: 6-32008486-C-T
• gnomAD v3: 6-32040709-C-T
• gnomAD v4: 6-32040709-C-T
• MyVariant Identifiers: chr6:g.32008486C>T (hg19) ; chr6:g.32040709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040709C>T , CM000668.2:g.32040709C>T	GRCh38
NC_000006.11:g.32008486C>T , CM000668.1:g.32008486C>T	GRCh37
NC_000006.10:g.32116465C>T	NCBI36
NG_007941.2:g.7402C>T
NG_008337.2:g.73666G>A
NG_007941.3:g.7405C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1160C>T MANE Select	ENSP00000496625.1:p.Pro387Leu
ENST00000418967.6:c.1160C>T	ENSP00000408860.2:p.Pro387Leu
ENST00000435122.3:c.1070C>T	ENSP00000415043.2:p.Pro357Leu
ENST00000479074.5:n.1301C>T
ENST00000479730.5:n.1276C>T
ENST00000483041.5:n.1329C>T
ENST00000486063.5:n.1139C>T
NM_000500.7:c.1160C>T	NP_000491.4:p.Pro387Leu
NM_001128590.3:c.1070C>T	NP_001122062.3:p.Pro357Leu
XM_011514314.1:c.755C>T	XP_011512616.1:p.Pro252Leu
NM_000500.9:c.1160C>T MANE Select	NP_000491.4:p.Pro387Leu
NM_001368143.1:c.755C>T	NP_001355072.1:p.Pro252Leu
NM_001368144.1:c.755C>T	NP_001355073.1:p.Pro252Leu
NM_001128590.4:c.1070C>T	NP_001122062.3:p.Pro357Leu
NM_001368143.2:c.755C>T	NP_001355072.1:p.Pro252Leu
NM_001368144.2:c.755C>T	NP_001355073.1:p.Pro252Leu