Canonical Allele Identifier: CA449818607

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1418676297
• gnomAD v2: 6-32007156-C-T
• gnomAD v4: 6-32039379-C-T
• MyVariant Identifiers: chr6:g.32007156C>T (hg19) ; chr6:g.32039379C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039379C>T , CM000668.2:g.32039379C>T	GRCh38
NC_000006.11:g.32007156C>T , CM000668.1:g.32007156C>T	GRCh37
NC_000006.10:g.32115135C>T	NCBI36
NG_007941.2:g.6072C>T
NG_008337.2:g.74996G>A
NG_007941.3:g.6075C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.471C>T MANE Select	ENSP00000496625.1:p.Thr157=
ENST00000418967.6:c.471C>T	ENSP00000408860.2:p.Thr157=
ENST00000435122.3:c.381C>T	ENSP00000415043.2:p.Thr127=
ENST00000462278.1:n.59C>T
ENST00000464325.5:n.392C>T
ENST00000466779.5:c.*163C>T	ENSP00000417321.1:n.*163C>T
ENST00000466879.5:n.522C>T
ENST00000469053.5:c.*163C>T	ENSP00000418104.1:n.*163C>T
ENST00000471671.4:c.471C>T	ENSP00000418561.1:p.Thr157=
ENST00000478281.5:c.504C>T	ENSP00000419572.1:p.Thr168=
ENST00000479074.5:n.529C>T
ENST00000479730.5:n.626C>T
ENST00000483041.5:n.640C>T
ENST00000486063.5:n.651C>T
ENST00000488465.1:n.479C>T
NM_000500.7:c.471C>T	NP_000491.4:p.Thr157=
NM_001128590.3:c.381C>T	NP_001122062.3:p.Thr127=
XM_011514314.1:c.66C>T	XP_011512616.1:p.Thr22=
NM_000500.9:c.471C>T MANE Select	NP_000491.4:p.Thr157=
NM_001368143.1:c.66C>T	NP_001355072.1:p.Thr22=
NM_001368144.1:c.66C>T	NP_001355073.1:p.Thr22=
NM_001128590.4:c.381C>T	NP_001122062.3:p.Thr127=
NM_001368143.2:c.66C>T	NP_001355072.1:p.Thr22=
NM_001368144.2:c.66C>T	NP_001355073.1:p.Thr22=