Canonical Allele Identifier: CA1619396934

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776089974

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039389dup , CM000668.2:g.32039389dup	GRCh38
NC_000006.11:g.32007166dup , CM000668.1:g.32007166dup	GRCh37
NC_000006.10:g.32115145dup	NCBI36
NG_007941.2:g.6082dup
NG_008337.2:g.74986dup
NG_007941.3:g.6085dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.481dup MANE Select	ENSP00000496625.1:p.Ile161AsnfsTer2
ENST00000418967.6:c.481dup	ENSP00000408860.2:p.Ile161AsnfsTer2
ENST00000435122.3:c.391dup	ENSP00000415043.2:p.Ile131AsnfsTer2
ENST00000462278.1:n.69dup
ENST00000464325.5:n.402dup
ENST00000466779.5:c.*173dup	ENSP00000417321.1:n.*173dup
ENST00000466879.5:n.532dup
ENST00000469053.5:c.*173dup	ENSP00000418104.1:n.*173dup
ENST00000471671.4:c.481dup	ENSP00000418561.1:p.Ile161AsnfsTer2
ENST00000478281.5:c.514dup	ENSP00000419572.1:p.Ile172AsnfsTer2
ENST00000479074.5:n.539dup
ENST00000479730.5:n.636dup
ENST00000483041.5:n.650dup
ENST00000486063.5:n.661dup
ENST00000488465.1:n.489dup
NM_000500.7:c.481dup	NP_000491.4:p.Ile161AsnfsTer2
NM_001128590.3:c.391dup	NP_001122062.3:p.Ile131AsnfsTer2
XM_011514314.1:c.76dup	XP_011512616.1:p.Ile26AsnfsTer2
NM_000500.9:c.481dup MANE Select	NP_000491.4:p.Ile161AsnfsTer2
NM_001368143.1:c.76dup	NP_001355072.1:p.Ile26AsnfsTer2
NM_001368144.1:c.76dup	NP_001355073.1:p.Ile26AsnfsTer2
NM_001128590.4:c.391dup	NP_001122062.3:p.Ile131AsnfsTer2
NM_001368143.2:c.76dup	NP_001355072.1:p.Ile26AsnfsTer2
NM_001368144.2:c.76dup	NP_001355073.1:p.Ile26AsnfsTer2