Canonical Allele Identifier: CA363500992

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32006915T>G (hg19) ; chr6:g.32039138T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039138T>G , CM000668.2:g.32039138T>G	GRCh38
NC_000006.11:g.32006915T>G , CM000668.1:g.32006915T>G	GRCh37
NC_000006.10:g.32114894T>G	NCBI36
NG_007941.2:g.5831T>G
NG_007941.3:g.5834T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.337T>G MANE Select	ENSP00000496625.1:p.Tyr113Asp
ENST00000418967.6:c.337T>G	ENSP00000408860.2:p.Tyr113Asp
ENST00000435122.3:c.247T>G	ENSP00000415043.2:p.Tyr83Asp
ENST00000464325.5:n.258T>G
ENST00000466779.5:c.*29T>G	ENSP00000417321.1:n.*29T>G
ENST00000466879.5:n.388T>G
ENST00000469053.5:c.*29T>G	ENSP00000418104.1:n.*29T>G
ENST00000471671.4:c.337T>G	ENSP00000418561.1:p.Tyr113Asp
ENST00000478281.5:c.370T>G	ENSP00000419572.1:p.Tyr124Asp
ENST00000479074.5:n.395T>G
ENST00000479730.5:n.492T>G
ENST00000483041.5:n.506T>G
ENST00000486063.5:n.517T>G
ENST00000488465.1:n.345T>G
NM_000500.7:c.337T>G	NP_000491.4:p.Tyr113Asp
NM_001128590.3:c.247T>G	NP_001122062.3:p.Tyr83Asp
XM_011514314.1:c.-69T>G	XP_011512616.1:n.-69T>G
NM_000500.9:c.337T>G MANE Select	NP_000491.4:p.Tyr113Asp
NM_001368143.1:c.-69T>G	NP_001355072.1:n.-69T>G
NM_001368144.1:c.-69T>G	NP_001355073.1:n.-69T>G
NM_001128590.4:c.247T>G	NP_001122062.3:p.Tyr83Asp
NM_001368143.2:c.-69T>G	NP_001355072.1:n.-69T>G
NM_001368144.2:c.-69T>G	NP_001355073.1:n.-69T>G