Canonical Allele Identifier: CA3732406

Gene: CYP21A2

Linked Data

• dbSNP Id: rs769769128
• ExAC: 6:32007136 A / G
• gnomAD v2: 6-32007136-A-G
• gnomAD v4: 6-32039359-A-G
• MyVariant Identifiers: chr6:g.32007136A>G (hg19) ; chr6:g.32039359A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039359A>G , CM000668.2:g.32039359A>G	GRCh38
NC_000006.11:g.32007136A>G , CM000668.1:g.32007136A>G	GRCh37
NC_000006.10:g.32115115A>G	NCBI36
NG_007941.2:g.6052A>G
NG_008337.2:g.75016T>C
NG_007941.3:g.6055A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.451A>G MANE Select	ENSP00000496625.1:p.Met151Val
ENST00000418967.6:c.451A>G	ENSP00000408860.2:p.Met151Val
ENST00000435122.3:c.361A>G	ENSP00000415043.2:p.Met121Val
ENST00000462278.1:n.39A>G
ENST00000464325.5:n.372A>G
ENST00000466779.5:c.*143A>G	ENSP00000417321.1:n.*143A>G
ENST00000466879.5:n.502A>G
ENST00000469053.5:c.*143A>G	ENSP00000418104.1:n.*143A>G
ENST00000471671.4:c.451A>G	ENSP00000418561.1:p.Met151Val
ENST00000478281.5:c.484A>G	ENSP00000419572.1:p.Met162Val
ENST00000479074.5:n.509A>G
ENST00000479730.5:n.606A>G
ENST00000483041.5:n.620A>G
ENST00000486063.5:n.631A>G
ENST00000488465.1:n.459A>G
NM_000500.7:c.451A>G	NP_000491.4:p.Met151Val
NM_001128590.3:c.361A>G	NP_001122062.3:p.Met121Val
XM_011514314.1:c.46A>G	XP_011512616.1:p.Met16Val
NM_000500.9:c.451A>G MANE Select	NP_000491.4:p.Met151Val
NM_001368143.1:c.46A>G	NP_001355072.1:p.Met16Val
NM_001368144.1:c.46A>G	NP_001355073.1:p.Met16Val
NM_001128590.4:c.361A>G	NP_001122062.3:p.Met121Val
NM_001368143.2:c.46A>G	NP_001355072.1:p.Met16Val
NM_001368144.2:c.46A>G	NP_001355073.1:p.Met16Val