Canonical Allele Identifier: CA363503216

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007226A>T (hg19) ; chr6:g.32039449A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039449A>T , CM000668.2:g.32039449A>T	GRCh38
NC_000006.11:g.32007226A>T , CM000668.1:g.32007226A>T	GRCh37
NC_000006.10:g.32115205A>T	NCBI36
NG_007941.2:g.6142A>T
NG_008337.2:g.74926T>A
NG_007941.3:g.6145A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.541A>T MANE Select	ENSP00000496625.1:p.Lys181Ter
ENST00000418967.6:c.541A>T	ENSP00000408860.2:p.Lys181Ter
ENST00000435122.3:c.451A>T	ENSP00000415043.2:p.Lys151Ter
ENST00000462278.1:n.129A>T
ENST00000464325.5:n.462A>T
ENST00000466779.5:c.*233A>T	ENSP00000417321.1:n.*233A>T
ENST00000466879.5:n.592A>T
ENST00000469053.5:c.*233A>T	ENSP00000418104.1:n.*233A>T
ENST00000471671.4:c.541A>T	ENSP00000418561.1:p.Lys181Ter
ENST00000479074.5:n.599A>T
ENST00000479730.5:n.696A>T
ENST00000483041.5:n.710A>T
ENST00000486063.5:n.721A>T
ENST00000488465.1:n.549A>T
NM_000500.7:c.541A>T	NP_000491.4:p.Lys181Ter
NM_001128590.3:c.451A>T	NP_001122062.3:p.Lys151Ter
XM_011514314.1:c.136A>T	XP_011512616.1:p.Lys46Ter
NM_000500.9:c.541A>T MANE Select	NP_000491.4:p.Lys181Ter
NM_001368143.1:c.136A>T	NP_001355072.1:p.Lys46Ter
NM_001368144.1:c.136A>T	NP_001355073.1:p.Lys46Ter
NM_001128590.4:c.451A>T	NP_001122062.3:p.Lys151Ter
NM_001368143.2:c.136A>T	NP_001355072.1:p.Lys46Ter
NM_001368144.2:c.136A>T	NP_001355073.1:p.Lys46Ter