Canonical Allele Identifier: CA566693816

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1329252033
• gnomAD v2: 6-32006406-G-C
• gnomAD v3: 6-32038629-G-C
• gnomAD v4: 6-32038629-G-C
• MyVariant Identifiers: chr6:g.32006406G>C (hg19) ; chr6:g.32038629G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038629G>C , CM000668.2:g.32038629G>C	GRCh38
NC_000006.11:g.32006406G>C , CM000668.1:g.32006406G>C	GRCh37
NC_000006.10:g.32114385G>C	NCBI36
NG_007941.2:g.5322G>C
NG_007941.3:g.5325G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.202+5G>C MANE Select	ENSP00000496625.1:n.202+5G>C
ENST00000418967.6:c.202+5G>C	ENSP00000408860.2:n.202+5G>C
ENST00000435122.3:c.202+5G>C	ENSP00000415043.2:n.202+5G>C
ENST00000464325.5:n.47G>C
ENST00000466779.5:c.202+5G>C	ENSP00000417321.1:n.202+5G>C
ENST00000469053.5:c.202+5G>C	ENSP00000418104.1:n.202+5G>C
ENST00000471671.4:c.202+5G>C	ENSP00000418561.1:n.202+5G>C
ENST00000478281.5:c.202+5G>C	ENSP00000419572.1:n.202+5G>C
ENST00000479074.5:n.260+5G>C
ENST00000479730.5:n.265G>C
ENST00000480027.1:n.255+5G>C
ENST00000483041.5:n.260G>C
ENST00000486063.5:n.290G>C
ENST00000488465.1:n.210+5G>C
NM_000500.7:c.202+5G>C	NP_000491.4:n.202+5G>C
NM_001128590.3:c.202+5G>C	NP_001122062.3:n.202+5G>C
XM_011514314.1:c.-223+5G>C	XP_011512616.1:n.-223+5G>C
NM_000500.9:c.202+5G>C MANE Select	NP_000491.4:n.202+5G>C
NM_001368143.1:c.-223+5G>C	NP_001355072.1:n.-223+5G>C
NM_001368144.1:c.-133+5G>C	NP_001355073.1:n.-133+5G>C
NM_001128590.4:c.202+5G>C	NP_001122062.3:n.202+5G>C
NM_001368143.2:c.-223+5G>C	NP_001355072.1:n.-223+5G>C
NM_001368144.2:c.-133+5G>C	NP_001355073.1:n.-133+5G>C