Canonical Allele Identifier: CA363500684

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32006872C>A (hg19) ; chr6:g.32039095C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039095C>A , CM000668.2:g.32039095C>A	GRCh38
NC_000006.11:g.32006872C>A , CM000668.1:g.32006872C>A	GRCh37
NC_000006.10:g.32114851C>A	NCBI36
NG_007941.2:g.5788C>A
NG_007941.3:g.5791C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.294C>A MANE Select	ENSP00000496625.1:p.Tyr98Ter
ENST00000418967.6:c.294C>A	ENSP00000408860.2:p.Tyr98Ter
ENST00000435122.3:c.204C>A	ENSP00000415043.2:p.Asp68Glu
ENST00000464325.5:n.230-15C>A
ENST00000466779.5:c.313C>A	ENSP00000417321.1:p.Gln105Lys
ENST00000466879.5:n.345C>A
ENST00000469053.5:c.223C>A	ENSP00000418104.1:p.Gln75Lys
ENST00000471671.4:c.294C>A	ENSP00000418561.1:p.Tyr98Ter
ENST00000478281.5:c.327C>A	ENSP00000419572.1:p.Asp109Glu
ENST00000479074.5:n.352C>A
ENST00000479730.5:n.449C>A
ENST00000480027.1:n.629C>A
ENST00000483041.5:n.463C>A
ENST00000486063.5:n.474C>A
ENST00000488465.1:n.302C>A
NM_000500.7:c.294C>A	NP_000491.4:p.Tyr98Ter
NM_001128590.3:c.204C>A	NP_001122062.3:p.Asp68Glu
XM_011514314.1:c.-112C>A	XP_011512616.1:n.-112C>A
NM_000500.9:c.294C>A MANE Select	NP_000491.4:p.Tyr98Ter
NM_001368143.1:c.-112C>A	NP_001355072.1:n.-112C>A
NM_001368144.1:c.-112C>A	NP_001355073.1:n.-112C>A
NM_001128590.4:c.204C>A	NP_001122062.3:p.Asp68Glu
NM_001368143.2:c.-112C>A	NP_001355072.1:n.-112C>A
NM_001368144.2:c.-112C>A	NP_001355073.1:n.-112C>A