Canonical Allele Identifier: CA3732619

Gene: CYP21A2

Linked Data

• dbSNP Id: rs144104274
• ExAC: 6:32008293 C / G
• gnomAD v2: 6-32008293-C-G
• gnomAD v4: 6-32040516-C-G
• MyVariant Identifiers: chr6:g.32008293C>G (hg19) ; chr6:g.32040516C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040516C>G , CM000668.2:g.32040516C>G	GRCh38
NC_000006.11:g.32008293C>G , CM000668.1:g.32008293C>G	GRCh37
NC_000006.10:g.32116272C>G	NCBI36
NG_007941.2:g.7209C>G
NG_008337.2:g.73859G>C
NG_007941.3:g.7212C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1050C>G MANE Select	ENSP00000496625.1:p.Ile350Met
ENST00000418967.6:c.1050C>G	ENSP00000408860.2:p.Ile350Met
ENST00000435122.3:c.960C>G	ENSP00000415043.2:p.Ile320Met
ENST00000479074.5:n.1108C>G
ENST00000479730.5:n.1166C>G
ENST00000483041.5:n.1219C>G
ENST00000486063.5:n.1029C>G
NM_000500.7:c.1050C>G	NP_000491.4:p.Ile350Met
NM_001128590.3:c.960C>G	NP_001122062.3:p.Ile320Met
XM_011514314.1:c.645C>G	XP_011512616.1:p.Ile215Met
NM_000500.9:c.1050C>G MANE Select	NP_000491.4:p.Ile350Met
NM_001368143.1:c.645C>G	NP_001355072.1:p.Ile215Met
NM_001368144.1:c.645C>G	NP_001355073.1:p.Ile215Met
NM_001128590.4:c.960C>G	NP_001122062.3:p.Ile320Met
NM_001368143.2:c.645C>G	NP_001355072.1:p.Ile215Met
NM_001368144.2:c.645C>G	NP_001355073.1:p.Ile215Met