Canonical Allele Identifier: CA363512138

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1426000285
• gnomAD v2: 6-32008739-T-G
• MyVariant Identifiers: chr6:g.32008739T>G (hg19) ; chr6:g.32040962T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040962T>G , CM000668.2:g.32040962T>G	GRCh38
NC_000006.11:g.32008739T>G , CM000668.1:g.32008739T>G	GRCh37
NC_000006.10:g.32116718T>G	NCBI36
NG_007941.2:g.7655T>G
NG_008337.2:g.73413A>C
NG_007941.3:g.7658T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1316T>G MANE Select	ENSP00000496625.1:p.Leu439Arg
ENST00000418967.6:c.1316T>G	ENSP00000408860.2:p.Leu439Arg
ENST00000435122.3:c.1226T>G	ENSP00000415043.2:p.Leu409Arg
ENST00000479074.5:n.1457T>G
ENST00000479730.5:n.1432T>G
ENST00000483041.5:n.1485T>G
ENST00000486063.5:n.1295T>G
NM_000500.7:c.1316T>G	NP_000491.4:p.Leu439Arg
NM_001128590.3:c.1226T>G	NP_001122062.3:p.Leu409Arg
XM_011514314.1:c.911T>G	XP_011512616.1:p.Leu304Arg
NM_000500.9:c.1316T>G MANE Select	NP_000491.4:p.Leu439Arg
NM_001368143.1:c.911T>G	NP_001355072.1:p.Leu304Arg
NM_001368144.1:c.911T>G	NP_001355073.1:p.Leu304Arg
NM_001128590.4:c.1226T>G	NP_001122062.3:p.Leu409Arg
NM_001368143.2:c.911T>G	NP_001355072.1:p.Leu304Arg
NM_001368144.2:c.911T>G	NP_001355073.1:p.Leu304Arg