Canonical Allele Identifier: CA3732486

Gene: CYP21A2

Linked Data

• dbSNP Id: rs780780640
• ExAC: 6:32007536 A / G
• gnomAD v2: 6-32007536-A-G
• gnomAD v3: 6-32039759-A-G
• gnomAD v4: 6-32039759-A-G
• COSMIC: COSM3347667
• MyVariant Identifiers: chr6:g.32007536A>G (hg19) ; chr6:g.32039759A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039759A>G , CM000668.2:g.32039759A>G	GRCh38
NC_000006.11:g.32007536A>G , CM000668.1:g.32007536A>G	GRCh37
NC_000006.10:g.32115515A>G	NCBI36
NG_007941.2:g.6452A>G
NG_008337.2:g.74616T>C
NG_007941.3:g.6455A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.662A>G MANE Select	ENSP00000496625.1:p.Asn221Ser
ENST00000418967.6:c.662A>G	ENSP00000408860.2:p.Asn221Ser
ENST00000435122.3:c.572A>G	ENSP00000415043.2:p.Asn191Ser
ENST00000462278.1:n.351A>G
ENST00000466779.5:c.*354A>G	ENSP00000417321.1:n.*354A>G
ENST00000466879.5:n.713A>G
ENST00000479074.5:n.720A>G
ENST00000479730.5:n.778A>G
ENST00000483041.5:n.831A>G
ENST00000486063.5:n.842A>G
NM_000500.7:c.662A>G	NP_000491.4:p.Asn221Ser
NM_001128590.3:c.572A>G	NP_001122062.3:p.Asn191Ser
XM_011514314.1:c.257A>G	XP_011512616.1:p.Asn86Ser
NM_000500.9:c.662A>G MANE Select	NP_000491.4:p.Asn221Ser
NM_001368143.1:c.257A>G	NP_001355072.1:p.Asn86Ser
NM_001368144.1:c.257A>G	NP_001355073.1:p.Asn86Ser
NM_001128590.4:c.572A>G	NP_001122062.3:p.Asn191Ser
NM_001368143.2:c.257A>G	NP_001355072.1:p.Asn86Ser
NM_001368144.2:c.257A>G	NP_001355073.1:p.Asn86Ser