Canonical Allele Identifier: CA3732540

Gene: CYP21A2

Linked Data

• dbSNP Id: rs767558605
• ExAC: 6:32007824 A / G
• gnomAD v2: 6-32007824-A-G
• gnomAD v4: 6-32040047-A-G
• MyVariant Identifiers: chr6:g.32007824A>G (hg19) ; chr6:g.32040047A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040047A>G , CM000668.2:g.32040047A>G	GRCh38
NC_000006.11:g.32007824A>G , CM000668.1:g.32007824A>G	GRCh37
NC_000006.10:g.32115803A>G	NCBI36
NG_007941.2:g.6740A>G
NG_008337.2:g.74328T>C
NG_007941.3:g.6743A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.781A>G MANE Select	ENSP00000496625.1:p.Met261Val
ENST00000418967.6:c.781A>G	ENSP00000408860.2:p.Met261Val
ENST00000435122.3:c.691A>G	ENSP00000415043.2:p.Met231Val
ENST00000479074.5:n.839A>G
ENST00000479730.5:n.897A>G
ENST00000483041.5:n.950A>G
ENST00000486063.5:n.918+212A>G
NM_000500.7:c.781A>G	NP_000491.4:p.Met261Val
NM_001128590.3:c.691A>G	NP_001122062.3:p.Met231Val
XM_011514314.1:c.376A>G	XP_011512616.1:p.Met126Val
NM_000500.9:c.781A>G MANE Select	NP_000491.4:p.Met261Val
NM_001368143.1:c.376A>G	NP_001355072.1:p.Met126Val
NM_001368144.1:c.376A>G	NP_001355073.1:p.Met126Val
NM_001128590.4:c.691A>G	NP_001122062.3:p.Met231Val
NM_001368143.2:c.376A>G	NP_001355072.1:p.Met126Val
NM_001368144.2:c.376A>G	NP_001355073.1:p.Met126Val