Canonical Allele Identifier: CA363498642

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1170743134
• gnomAD v2: 6-32006227-C-G
• MyVariant Identifiers: chr6:g.32006227C>G (hg19) ; chr6:g.32038450C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038450C>G , CM000668.2:g.32038450C>G	GRCh38
NC_000006.11:g.32006227C>G , CM000668.1:g.32006227C>G	GRCh37
NC_000006.10:g.32114206C>G	NCBI36
NG_007941.2:g.5143C>G
NG_007941.3:g.5146C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.28C>G MANE Select	ENSP00000496625.1:p.Leu10Val
ENST00000418967.6:c.28C>G	ENSP00000408860.2:p.Leu10Val
ENST00000435122.3:c.28C>G	ENSP00000415043.2:p.Leu10Val
ENST00000466779.5:c.28C>G	ENSP00000417321.1:p.Leu10Val
ENST00000469053.5:c.28C>G	ENSP00000418104.1:p.Leu10Val
ENST00000471671.4:c.28C>G	ENSP00000418561.1:p.Leu10Val
ENST00000478281.5:c.28C>G	ENSP00000419572.1:p.Leu10Val
ENST00000479074.5:n.86C>G
ENST00000479730.5:n.86C>G
ENST00000480027.1:n.81C>G
ENST00000483041.5:n.81C>G
ENST00000486063.5:n.111C>G
ENST00000488465.1:n.36C>G
NM_000500.7:c.28C>G	NP_000491.4:p.Leu10Val
NM_001128590.3:c.28C>G	NP_001122062.3:p.Leu10Val
XM_011514314.1:c.-397C>G	XP_011512616.1:n.-397C>G
NM_000500.9:c.28C>G MANE Select	NP_000491.4:p.Leu10Val
NM_001368143.1:c.-397C>G	NP_001355072.1:n.-397C>G
NM_001368144.1:c.-307C>G	NP_001355073.1:n.-307C>G
NM_001128590.4:c.28C>G	NP_001122062.3:p.Leu10Val
NM_001368143.2:c.-397C>G	NP_001355072.1:n.-397C>G
NM_001368144.2:c.-307C>G	NP_001355073.1:n.-307C>G