Canonical Allele Identifier: CA363503040

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007203T>C (hg19) ; chr6:g.32039426T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039426T>C , CM000668.2:g.32039426T>C	GRCh38
NC_000006.11:g.32007203T>C , CM000668.1:g.32007203T>C	GRCh37
NC_000006.10:g.32115182T>C	NCBI36
NG_007941.2:g.6119T>C
NG_008337.2:g.74949A>G
NG_007941.3:g.6122T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.518T>C MANE Select	ENSP00000496625.1:p.Ile173Thr
ENST00000418967.6:c.518T>C	ENSP00000408860.2:p.Ile173Thr
ENST00000435122.3:c.428T>C	ENSP00000415043.2:p.Ile143Thr
ENST00000462278.1:n.106T>C
ENST00000464325.5:n.439T>C
ENST00000466779.5:c.*210T>C	ENSP00000417321.1:n.*210T>C
ENST00000466879.5:n.569T>C
ENST00000469053.5:c.*210T>C	ENSP00000418104.1:n.*210T>C
ENST00000471671.4:c.518T>C	ENSP00000418561.1:p.Ile173Thr
ENST00000478281.5:c.551T>C	ENSP00000419572.1:p.Ile184Thr
ENST00000479074.5:n.576T>C
ENST00000479730.5:n.673T>C
ENST00000483041.5:n.687T>C
ENST00000486063.5:n.698T>C
ENST00000488465.1:n.526T>C
NM_000500.7:c.518T>C	NP_000491.4:p.Ile173Thr
NM_001128590.3:c.428T>C	NP_001122062.3:p.Ile143Thr
XM_011514314.1:c.113T>C	XP_011512616.1:p.Ile38Thr
NM_000500.9:c.518T>C MANE Select	NP_000491.4:p.Ile173Thr
NM_001368143.1:c.113T>C	NP_001355072.1:p.Ile38Thr
NM_001368144.1:c.113T>C	NP_001355073.1:p.Ile38Thr
NM_001128590.4:c.428T>C	NP_001122062.3:p.Ile143Thr
NM_001368143.2:c.113T>C	NP_001355072.1:p.Ile38Thr
NM_001368144.2:c.113T>C	NP_001355073.1:p.Ile38Thr