Canonical Allele Identifier: CA363501734

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32006993G>C (hg19) ; chr6:g.32039216G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039216G>C , CM000668.2:g.32039216G>C	GRCh38
NC_000006.11:g.32006993G>C , CM000668.1:g.32006993G>C	GRCh37
NC_000006.10:g.32114972G>C	NCBI36
NG_007941.2:g.5909G>C
NG_008337.2:g.75159C>G
NG_007941.3:g.5912G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.415G>C MANE Select	ENSP00000496625.1:p.Val139Leu
ENST00000418967.6:c.415G>C	ENSP00000408860.2:p.Val139Leu
ENST00000435122.3:c.325G>C	ENSP00000415043.2:p.Val109Leu
ENST00000462278.1:n.3G>C
ENST00000464325.5:n.336G>C
ENST00000466779.5:c.*107G>C	ENSP00000417321.1:n.*107G>C
ENST00000466879.5:n.466G>C
ENST00000469053.5:c.*107G>C	ENSP00000418104.1:n.*107G>C
ENST00000471671.4:c.415G>C	ENSP00000418561.1:p.Val139Leu
ENST00000478281.5:c.448G>C	ENSP00000419572.1:p.Val150Leu
ENST00000479074.5:n.473G>C
ENST00000479730.5:n.570G>C
ENST00000483041.5:n.584G>C
ENST00000486063.5:n.595G>C
ENST00000488465.1:n.423G>C
NM_000500.7:c.415G>C	NP_000491.4:p.Val139Leu
NM_001128590.3:c.325G>C	NP_001122062.3:p.Val109Leu
XM_011514314.1:c.10G>C	XP_011512616.1:p.Val4Leu
NM_000500.9:c.415G>C MANE Select	NP_000491.4:p.Val139Leu
NM_001368143.1:c.10G>C	NP_001355072.1:p.Val4Leu
NM_001368144.1:c.10G>C	NP_001355073.1:p.Val4Leu
NM_001128590.4:c.325G>C	NP_001122062.3:p.Val109Leu
NM_001368143.2:c.10G>C	NP_001355072.1:p.Val4Leu
NM_001368144.2:c.10G>C	NP_001355073.1:p.Val4Leu