Canonical Allele Identifier: CA566694951

Gene: CYP21A2

Linked Data

• dbSNP Id: rs752527048
• gnomAD v2: 6-32007053-G-T
• gnomAD v3: 6-32039276-G-T
• gnomAD v4: 6-32039276-G-T
• MyVariant Identifiers: chr6:g.32007053G>T (hg19) ; chr6:g.32039276G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039276G>T , CM000668.2:g.32039276G>T	GRCh38
NC_000006.11:g.32007053G>T , CM000668.1:g.32007053G>T	GRCh37
NC_000006.10:g.32115032G>T	NCBI36
NG_007941.2:g.5969G>T
NG_008337.2:g.75099C>A
NG_007941.3:g.5972G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.447+28G>T MANE Select	ENSP00000496625.1:n.447+28G>T
ENST00000418967.6:c.447+28G>T	ENSP00000408860.2:n.447+28G>T
ENST00000435122.3:c.357+28G>T	ENSP00000415043.2:n.357+28G>T
ENST00000462278.1:n.35+28G>T
ENST00000464325.5:n.368+28G>T
ENST00000466779.5:c.*139+28G>T	ENSP00000417321.1:n.*139+28G>T
ENST00000466879.5:n.498+28G>T
ENST00000469053.5:c.*139+28G>T	ENSP00000418104.1:n.*139+28G>T
ENST00000471671.4:c.447+28G>T	ENSP00000418561.1:n.447+28G>T
ENST00000478281.5:c.480+28G>T	ENSP00000419572.1:n.480+28G>T
ENST00000479074.5:n.505+28G>T
ENST00000479730.5:n.602+28G>T
ENST00000483041.5:n.616+28G>T
ENST00000486063.5:n.627+28G>T
ENST00000488465.1:n.455+28G>T
NM_000500.7:c.447+28G>T	NP_000491.4:n.447+28G>T
NM_001128590.3:c.357+28G>T	NP_001122062.3:n.357+28G>T
XM_011514314.1:c.42+28G>T	XP_011512616.1:n.42+28G>T
NM_000500.9:c.447+28G>T MANE Select	NP_000491.4:n.447+28G>T
NM_001368143.1:c.42+28G>T	NP_001355072.1:n.42+28G>T
NM_001368144.1:c.42+28G>T	NP_001355073.1:n.42+28G>T
NM_001128590.4:c.357+28G>T	NP_001122062.3:n.357+28G>T
NM_001368143.2:c.42+28G>T	NP_001355072.1:n.42+28G>T
NM_001368144.2:c.42+28G>T	NP_001355073.1:n.42+28G>T