Canonical Allele Identifier: CA363498742

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32006258G>T (hg19) ; chr6:g.32038481G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038481G>T , CM000668.2:g.32038481G>T	GRCh38
NC_000006.11:g.32006258G>T , CM000668.1:g.32006258G>T	GRCh37
NC_000006.10:g.32114237G>T	NCBI36
NG_007941.2:g.5174G>T
NG_007941.3:g.5177G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.59G>T MANE Select	ENSP00000496625.1:p.Trp20Leu
ENST00000418967.6:c.59G>T	ENSP00000408860.2:p.Trp20Leu
ENST00000435122.3:c.59G>T	ENSP00000415043.2:p.Trp20Leu
ENST00000466779.5:c.59G>T	ENSP00000417321.1:p.Trp20Leu
ENST00000469053.5:c.59G>T	ENSP00000418104.1:p.Trp20Leu
ENST00000471671.4:c.59G>T	ENSP00000418561.1:p.Trp20Leu
ENST00000478281.5:c.59G>T	ENSP00000419572.1:p.Trp20Leu
ENST00000479074.5:n.117G>T
ENST00000479730.5:n.117G>T
ENST00000480027.1:n.112G>T
ENST00000483041.5:n.112G>T
ENST00000486063.5:n.142G>T
ENST00000488465.1:n.67G>T
NM_000500.7:c.59G>T	NP_000491.4:p.Trp20Leu
NM_001128590.3:c.59G>T	NP_001122062.3:p.Trp20Leu
XM_011514314.1:c.-366G>T	XP_011512616.1:n.-366G>T
NM_000500.9:c.59G>T MANE Select	NP_000491.4:p.Trp20Leu
NM_001368143.1:c.-366G>T	NP_001355072.1:n.-366G>T
NM_001368144.1:c.-276G>T	NP_001355073.1:n.-276G>T
NM_001128590.4:c.59G>T	NP_001122062.3:p.Trp20Leu
NM_001368143.2:c.-366G>T	NP_001355072.1:n.-366G>T
NM_001368144.2:c.-276G>T	NP_001355073.1:n.-276G>T