Canonical Allele Identifier: CA136894114

Gene: CYP21A2

Linked Data

• dbSNP Id: rs903189689
• MyVariant Identifiers: chr6:g.32007139A>G (hg19) ; chr6:g.32039362A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039362A>G , CM000668.2:g.32039362A>G	GRCh38
NC_000006.11:g.32007139A>G , CM000668.1:g.32007139A>G	GRCh37
NC_000006.10:g.32115118A>G	NCBI36
NG_007941.2:g.6055A>G
NG_008337.2:g.75013T>C
NG_007941.3:g.6058A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.454A>G MANE Select	ENSP00000496625.1:p.Arg152Gly
ENST00000418967.6:c.454A>G	ENSP00000408860.2:p.Arg152Gly
ENST00000435122.3:c.364A>G	ENSP00000415043.2:p.Arg122Gly
ENST00000462278.1:n.42A>G
ENST00000464325.5:n.375A>G
ENST00000466779.5:c.*146A>G	ENSP00000417321.1:n.*146A>G
ENST00000466879.5:n.505A>G
ENST00000469053.5:c.*146A>G	ENSP00000418104.1:n.*146A>G
ENST00000471671.4:c.454A>G	ENSP00000418561.1:p.Arg152Gly
ENST00000478281.5:c.487A>G	ENSP00000419572.1:p.Arg163Gly
ENST00000479074.5:n.512A>G
ENST00000479730.5:n.609A>G
ENST00000483041.5:n.623A>G
ENST00000486063.5:n.634A>G
ENST00000488465.1:n.462A>G
NM_000500.7:c.454A>G	NP_000491.4:p.Arg152Gly
NM_001128590.3:c.364A>G	NP_001122062.3:p.Arg122Gly
XM_011514314.1:c.49A>G	XP_011512616.1:p.Arg17Gly
NM_000500.9:c.454A>G MANE Select	NP_000491.4:p.Arg152Gly
NM_001368143.1:c.49A>G	NP_001355072.1:p.Arg17Gly
NM_001368144.1:c.49A>G	NP_001355073.1:p.Arg17Gly
NM_001128590.4:c.364A>G	NP_001122062.3:p.Arg122Gly
NM_001368143.2:c.49A>G	NP_001355072.1:p.Arg17Gly
NM_001368144.2:c.49A>G	NP_001355073.1:p.Arg17Gly