Canonical Allele Identifier: CA3732612

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 2734843
• ClinVar RCV Id: RCV003555242
• dbSNP Id: rs139392370
• ExAC: 6:32008254 C / G
• gnomAD v2: 6-32008254-C-G
• gnomAD v3: 6-32040477-C-G
• gnomAD v4: 6-32040477-C-G
• MyVariant Identifiers: chr6:g.32008254C>G (hg19) ; chr6:g.32040477C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040477C>G , CM000668.2:g.32040477C>G	GRCh38
NC_000006.11:g.32008254C>G , CM000668.1:g.32008254C>G	GRCh37
NC_000006.10:g.32116233C>G	NCBI36
NG_007941.2:g.7170C>G
NG_008337.2:g.73898G>C
NG_007941.3:g.7173C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1011C>G MANE Select	ENSP00000496625.1:p.Tyr337Ter
ENST00000418967.6:c.1011C>G	ENSP00000408860.2:p.Tyr337Ter
ENST00000435122.3:c.921C>G	ENSP00000415043.2:p.Tyr307Ter
ENST00000479074.5:n.1069C>G
ENST00000479730.5:n.1127C>G
ENST00000483041.5:n.1180C>G
ENST00000486063.5:n.990C>G
NM_000500.7:c.1011C>G	NP_000491.4:p.Tyr337Ter
NM_001128590.3:c.921C>G	NP_001122062.3:p.Tyr307Ter
XM_011514314.1:c.606C>G	XP_011512616.1:p.Tyr202Ter
NM_000500.9:c.1011C>G MANE Select	NP_000491.4:p.Tyr337Ter
NM_001368143.1:c.606C>G	NP_001355072.1:p.Tyr202Ter
NM_001368144.1:c.606C>G	NP_001355073.1:p.Tyr202Ter
NM_001128590.4:c.921C>G	NP_001122062.3:p.Tyr307Ter
NM_001368143.2:c.606C>G	NP_001355072.1:p.Tyr202Ter
NM_001368144.2:c.606C>G	NP_001355073.1:p.Tyr202Ter