Canonical Allele Identifier: CA566694962

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1376479664
• gnomAD v2: 6-32007121-G-C
• gnomAD v4: 6-32039344-G-C
• MyVariant Identifiers: chr6:g.32007121G>C (hg19) ; chr6:g.32039344G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039344G>C , CM000668.2:g.32039344G>C	GRCh38
NC_000006.11:g.32007121G>C , CM000668.1:g.32007121G>C	GRCh37
NC_000006.10:g.32115100G>C	NCBI36
NG_007941.2:g.6037G>C
NG_008337.2:g.75031C>G
NG_007941.3:g.6040G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.448-12G>C MANE Select	ENSP00000496625.1:n.448-12G>C
ENST00000418967.6:c.448-12G>C	ENSP00000408860.2:n.448-12G>C
ENST00000435122.3:c.358-12G>C	ENSP00000415043.2:n.358-12G>C
ENST00000462278.1:n.36-12G>C
ENST00000464325.5:n.369-12G>C
ENST00000466779.5:c.*140-12G>C	ENSP00000417321.1:n.*140-12G>C
ENST00000466879.5:n.499-12G>C
ENST00000469053.5:c.*140-12G>C	ENSP00000418104.1:n.*140-12G>C
ENST00000471671.4:c.448-12G>C	ENSP00000418561.1:n.448-12G>C
ENST00000478281.5:c.481-12G>C	ENSP00000419572.1:n.481-12G>C
ENST00000479074.5:n.506-12G>C
ENST00000479730.5:n.603-12G>C
ENST00000483041.5:n.617-12G>C
ENST00000486063.5:n.628-12G>C
ENST00000488465.1:n.456-12G>C
NM_000500.7:c.448-12G>C	NP_000491.4:n.448-12G>C
NM_001128590.3:c.358-12G>C	NP_001122062.3:n.358-12G>C
XM_011514314.1:c.43-12G>C	XP_011512616.1:n.43-12G>C
NM_000500.9:c.448-12G>C MANE Select	NP_000491.4:n.448-12G>C
NM_001368143.1:c.43-12G>C	NP_001355072.1:n.43-12G>C
NM_001368144.1:c.43-12G>C	NP_001355073.1:n.43-12G>C
NM_001128590.4:c.358-12G>C	NP_001122062.3:n.358-12G>C
NM_001368143.2:c.43-12G>C	NP_001355072.1:n.43-12G>C
NM_001368144.2:c.43-12G>C	NP_001355073.1:n.43-12G>C