Canonical Allele Identifier: CA363500111

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1279630505
• gnomAD v2: 6-32006576-G-C
• gnomAD v3: 6-32038799-G-C
• gnomAD v4: 6-32038799-G-C
• MyVariant Identifiers: chr6:g.32006576G>C (hg19) ; chr6:g.32038799G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038799G>C , CM000668.2:g.32038799G>C	GRCh38
NC_000006.11:g.32006576G>C , CM000668.1:g.32006576G>C	GRCh37
NC_000006.10:g.32114555G>C	NCBI36
NG_007941.2:g.5492G>C
NG_007941.3:g.5495G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.280G>C MANE Select	ENSP00000496625.1:p.Glu94Gln
ENST00000418967.6:c.280G>C	ENSP00000408860.2:p.Glu94Gln
ENST00000435122.3:c.202+175G>C	ENSP00000415043.2:n.202+175G>C
ENST00000464325.5:n.217G>C
ENST00000466779.5:c.280G>C	ENSP00000417321.1:p.Glu94Gln
ENST00000466879.5:n.49G>C
ENST00000469053.5:c.202+175G>C	ENSP00000418104.1:n.202+175G>C
ENST00000471671.4:c.280G>C	ENSP00000418561.1:p.Glu94Gln
ENST00000478281.5:c.280G>C	ENSP00000419572.1:p.Glu94Gln
ENST00000479074.5:n.338G>C
ENST00000479730.5:n.435G>C
ENST00000480027.1:n.333G>C
ENST00000483041.5:n.430G>C
ENST00000486063.5:n.460G>C
ENST00000488465.1:n.288G>C
NM_000500.7:c.280G>C	NP_000491.4:p.Glu94Gln
NM_001128590.3:c.202+175G>C	NP_001122062.3:n.202+175G>C
XM_011514314.1:c.-145G>C	XP_011512616.1:n.-145G>C
NM_000500.9:c.280G>C MANE Select	NP_000491.4:p.Glu94Gln
NM_001368143.1:c.-145G>C	NP_001355072.1:n.-145G>C
NM_001368144.1:c.-133+175G>C	NP_001355073.1:n.-133+175G>C
NM_001128590.4:c.202+175G>C	NP_001122062.3:n.202+175G>C
NM_001368143.2:c.-145G>C	NP_001355072.1:n.-145G>C
NM_001368144.2:c.-133+175G>C	NP_001355073.1:n.-133+175G>C