Canonical Allele Identifier: CA1619399402

Gene: CYP21A2

Linked Data

• dbSNP Id: rs779360081

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040781_32040783dup , CM000668.2:g.32040781_32040783dup	GRCh38
NC_000006.11:g.32008558_32008560dup , CM000668.1:g.32008558_32008560dup	GRCh37
NC_000006.10:g.32116537_32116539dup	NCBI36
NG_007941.2:g.7474_7476dup
NG_008337.2:g.73595_73597dup
NG_007941.3:g.7477_7479dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1222+10_1222+12dup MANE Select	ENSP00000496625.1:n.1222+10_1222+12dup
ENST00000418967.6:c.1222+10_1222+12dup	ENSP00000408860.2:n.1222+10_1222+12dup
ENST00000435122.3:c.1132+10_1132+12dup	ENSP00000415043.2:n.1132+10_1132+12dup
ENST00000479074.5:n.1363+10_1363+12dup
ENST00000479730.5:n.1338+10_1338+12dup
ENST00000483041.5:n.1391+10_1391+12dup
ENST00000486063.5:n.1201+10_1201+12dup
NM_000500.7:c.1222+10_1222+12dup	NP_000491.4:n.1222+10_1222+12dup
NM_001128590.3:c.1132+10_1132+12dup	NP_001122062.3:n.1132+10_1132+12dup
XM_011514314.1:c.817+10_817+12dup	XP_011512616.1:n.817+10_817+12dup
NM_000500.9:c.1222+10_1222+12dup MANE Select	NP_000491.4:n.1222+10_1222+12dup
NM_001368143.1:c.817+10_817+12dup	NP_001355072.1:n.817+10_817+12dup
NM_001368144.1:c.817+10_817+12dup	NP_001355073.1:n.817+10_817+12dup
NM_001128590.4:c.1132+10_1132+12dup	NP_001122062.3:n.1132+10_1132+12dup
NM_001368143.2:c.817+10_817+12dup	NP_001355072.1:n.817+10_817+12dup
NM_001368144.2:c.817+10_817+12dup	NP_001355073.1:n.817+10_817+12dup