Canonical Allele Identifier: CA363506778

Gene: CYP21A2

Linked Data

• dbSNP Id: rs747482395
• gnomAD v3: 6-32040095-C-G
• gnomAD v4: 6-32040095-C-G
• MyVariant Identifiers: chr6:g.32007872C>G (hg19) ; chr6:g.32040095C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040095C>G , CM000668.2:g.32040095C>G	GRCh38
NC_000006.11:g.32007872C>G , CM000668.1:g.32007872C>G	GRCh37
NC_000006.10:g.32115851C>G	NCBI36
NG_007941.2:g.6788C>G
NG_008337.2:g.74280G>C
NG_007941.3:g.6791C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.829C>G MANE Select	ENSP00000496625.1:p.Leu277Val
ENST00000418967.6:c.829C>G	ENSP00000408860.2:p.Leu277Val
ENST00000435122.3:c.739C>G	ENSP00000415043.2:p.Leu247Val
ENST00000479074.5:n.887C>G
ENST00000479730.5:n.945C>G
ENST00000483041.5:n.998C>G
ENST00000486063.5:n.918+260C>G
NM_000500.7:c.829C>G	NP_000491.4:p.Leu277Val
NM_001128590.3:c.739C>G	NP_001122062.3:p.Leu247Val
XM_011514314.1:c.424C>G	XP_011512616.1:p.Leu142Val
NM_000500.9:c.829C>G MANE Select	NP_000491.4:p.Leu277Val
NM_001368143.1:c.424C>G	NP_001355072.1:p.Leu142Val
NM_001368144.1:c.424C>G	NP_001355073.1:p.Leu142Val
NM_001128590.4:c.739C>G	NP_001122062.3:p.Leu247Val
NM_001368143.2:c.424C>G	NP_001355072.1:p.Leu142Val
NM_001368144.2:c.424C>G	NP_001355073.1:p.Leu142Val