Canonical Allele Identifier: CA3732380

Gene: CYP21A2

Linked Data

• dbSNP Id: rs749639252
• ExAC: 6:32006987 G / T
• gnomAD v2: 6-32006987-G-T
• gnomAD v3: 6-32039210-G-T
• gnomAD v4: 6-32039210-G-T
• MyVariant Identifiers: chr6:g.32006987G>T (hg19) ; chr6:g.32039210G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039210G>T , CM000668.2:g.32039210G>T	GRCh38
NC_000006.11:g.32006987G>T , CM000668.1:g.32006987G>T	GRCh37
NC_000006.10:g.32114966G>T	NCBI36
NG_007941.2:g.5903G>T
NG_008337.2:g.75165C>A
NG_007941.3:g.5906G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.409G>T MANE Select	ENSP00000496625.1:p.Glu137Ter
ENST00000418967.6:c.409G>T	ENSP00000408860.2:p.Glu137Ter
ENST00000435122.3:c.319G>T	ENSP00000415043.2:p.Glu107Ter
ENST00000464325.5:n.330G>T
ENST00000466779.5:c.*101G>T	ENSP00000417321.1:n.*101G>T
ENST00000466879.5:n.460G>T
ENST00000469053.5:c.*101G>T	ENSP00000418104.1:n.*101G>T
ENST00000471671.4:c.409G>T	ENSP00000418561.1:p.Glu137Ter
ENST00000478281.5:c.442G>T	ENSP00000419572.1:p.Glu148Ter
ENST00000479074.5:n.467G>T
ENST00000479730.5:n.564G>T
ENST00000483041.5:n.578G>T
ENST00000486063.5:n.589G>T
ENST00000488465.1:n.417G>T
NM_000500.7:c.409G>T	NP_000491.4:p.Glu137Ter
NM_001128590.3:c.319G>T	NP_001122062.3:p.Glu107Ter
XM_011514314.1:c.4G>T	XP_011512616.1:p.Glu2Ter
NM_000500.9:c.409G>T MANE Select	NP_000491.4:p.Glu137Ter
NM_001368143.1:c.4G>T	NP_001355072.1:p.Glu2Ter
NM_001368144.1:c.4G>T	NP_001355073.1:p.Glu2Ter
NM_001128590.4:c.319G>T	NP_001122062.3:p.Glu107Ter
NM_001368143.2:c.4G>T	NP_001355072.1:p.Glu2Ter
NM_001368144.2:c.4G>T	NP_001355073.1:p.Glu2Ter