Canonical Allele Identifier: CA566694893

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1234054522
• gnomAD v2: 6-32006863-T-C
• gnomAD v3: 6-32039086-T-C
• gnomAD v4: 6-32039086-T-C
• MyVariant Identifiers: chr6:g.32006863T>C (hg19) ; chr6:g.32039086T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039086T>C , CM000668.2:g.32039086T>C	GRCh38
NC_000006.11:g.32006863T>C , CM000668.1:g.32006863T>C	GRCh37
NC_000006.10:g.32114842T>C	NCBI36
NG_007941.2:g.5779T>C
NG_007941.3:g.5782T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.293-8T>C MANE Select	ENSP00000496625.1:n.293-8T>C
ENST00000418967.6:c.293-8T>C	ENSP00000408860.2:n.293-8T>C
ENST00000435122.3:c.203-8T>C	ENSP00000415043.2:n.203-8T>C
ENST00000464325.5:n.230-24T>C
ENST00000466779.5:c.304T>C	ENSP00000417321.1:p.Ser102Pro
ENST00000466879.5:n.336T>C
ENST00000469053.5:c.214T>C	ENSP00000418104.1:p.Ser72Pro
ENST00000471671.4:c.293-8T>C	ENSP00000418561.1:n.293-8T>C
ENST00000478281.5:c.318T>C	ENSP00000419572.1:p.Pro106=
ENST00000479074.5:n.351-8T>C
ENST00000479730.5:n.448-8T>C
ENST00000480027.1:n.620T>C
ENST00000483041.5:n.454T>C
ENST00000486063.5:n.473-8T>C
ENST00000488465.1:n.301-8T>C
NM_000500.7:c.293-8T>C	NP_000491.4:n.293-8T>C
NM_001128590.3:c.203-8T>C	NP_001122062.3:n.203-8T>C
XM_011514314.1:c.-121T>C	XP_011512616.1:n.-121T>C
NM_000500.9:c.293-8T>C MANE Select	NP_000491.4:n.293-8T>C
NM_001368143.1:c.-121T>C	NP_001355072.1:n.-121T>C
NM_001368144.1:c.-121T>C	NP_001355073.1:n.-121T>C
NM_001128590.4:c.203-8T>C	NP_001122062.3:n.203-8T>C
NM_001368143.2:c.-121T>C	NP_001355072.1:n.-121T>C
NM_001368144.2:c.-121T>C	NP_001355073.1:n.-121T>C