Canonical Allele Identifier: CA3732682

Gene: CYP21A2

Linked Data

• dbSNP Id: rs756876796
• ExAC: 6:32008562 C / CG
• gnomAD v4: 6-32040785-C-CG
• MyVariant Identifiers: chr6:g.32008562_32008563insG (hg19) ; chr6:g.32040785_32040786insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040790dup , CM000668.2:g.32040790dup	GRCh38
NC_000006.11:g.32008567dup , CM000668.1:g.32008567dup	GRCh37
NC_000006.10:g.32116546dup	NCBI36
NG_007941.2:g.7483dup
NG_008337.2:g.73589dup
NG_007941.3:g.7486dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1222+19dup MANE Select	ENSP00000496625.1:n.1222+19dup
ENST00000418967.6:c.1222+19dup	ENSP00000408860.2:n.1222+19dup
ENST00000435122.3:c.1132+19dup	ENSP00000415043.2:n.1132+19dup
ENST00000479074.5:n.1363+19dup
ENST00000479730.5:n.1338+19dup
ENST00000483041.5:n.1391+19dup
ENST00000486063.5:n.1201+19dup
NM_000500.7:c.1222+19dup	NP_000491.4:n.1222+19dup
NM_001128590.3:c.1132+19dup	NP_001122062.3:n.1132+19dup
XM_011514314.1:c.817+19dup	XP_011512616.1:n.817+19dup
NM_000500.9:c.1222+19dup MANE Select	NP_000491.4:n.1222+19dup
NM_001368143.1:c.817+19dup	NP_001355072.1:n.817+19dup
NM_001368144.1:c.817+19dup	NP_001355073.1:n.817+19dup
NM_001128590.4:c.1132+19dup	NP_001122062.3:n.1132+19dup
NM_001368143.2:c.817+19dup	NP_001355072.1:n.817+19dup
NM_001368144.2:c.817+19dup	NP_001355073.1:n.817+19dup