Canonical Allele Identifier: CA363504518

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007526T>G (hg19) ; chr6:g.32039749T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039749T>G , CM000668.2:g.32039749T>G	GRCh38
NC_000006.11:g.32007526T>G , CM000668.1:g.32007526T>G	GRCh37
NC_000006.10:g.32115505T>G	NCBI36
NG_007941.2:g.6442T>G
NG_008337.2:g.74626A>C
NG_007941.3:g.6445T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.652T>G MANE Select	ENSP00000496625.1:p.Phe218Val
ENST00000418967.6:c.652T>G	ENSP00000408860.2:p.Phe218Val
ENST00000435122.3:c.562T>G	ENSP00000415043.2:p.Phe188Val
ENST00000462278.1:n.341T>G
ENST00000464325.5:n.573T>G
ENST00000466779.5:c.*344T>G	ENSP00000417321.1:n.*344T>G
ENST00000466879.5:n.703T>G
ENST00000479074.5:n.710T>G
ENST00000479730.5:n.768T>G
ENST00000483041.5:n.821T>G
ENST00000486063.5:n.832T>G
NM_000500.7:c.652T>G	NP_000491.4:p.Phe218Val
NM_001128590.3:c.562T>G	NP_001122062.3:p.Phe188Val
XM_011514314.1:c.247T>G	XP_011512616.1:p.Phe83Val
NM_000500.9:c.652T>G MANE Select	NP_000491.4:p.Phe218Val
NM_001368143.1:c.247T>G	NP_001355072.1:p.Phe83Val
NM_001368144.1:c.247T>G	NP_001355073.1:p.Phe83Val
NM_001128590.4:c.562T>G	NP_001122062.3:p.Phe188Val
NM_001368143.2:c.247T>G	NP_001355072.1:p.Phe83Val
NM_001368144.2:c.247T>G	NP_001355073.1:p.Phe83Val