Canonical Allele Identifier: CA363499895

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32006543G>T (hg19) ; chr6:g.32038766G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038766G>T , CM000668.2:g.32038766G>T	GRCh38
NC_000006.11:g.32006543G>T , CM000668.1:g.32006543G>T	GRCh37
NC_000006.10:g.32114522G>T	NCBI36
NG_007941.2:g.5459G>T
NG_007941.3:g.5462G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.247G>T MANE Select	ENSP00000496625.1:p.Val83Phe
ENST00000418967.6:c.247G>T	ENSP00000408860.2:p.Val83Phe
ENST00000435122.3:c.202+142G>T	ENSP00000415043.2:n.202+142G>T
ENST00000464325.5:n.184G>T
ENST00000466779.5:c.247G>T	ENSP00000417321.1:p.Val83Phe
ENST00000466879.5:n.16G>T
ENST00000469053.5:c.202+142G>T	ENSP00000418104.1:n.202+142G>T
ENST00000471671.4:c.247G>T	ENSP00000418561.1:p.Val83Phe
ENST00000478281.5:c.247G>T	ENSP00000419572.1:p.Val83Phe
ENST00000479074.5:n.305G>T
ENST00000479730.5:n.402G>T
ENST00000480027.1:n.300G>T
ENST00000483041.5:n.397G>T
ENST00000486063.5:n.427G>T
ENST00000488465.1:n.255G>T
NM_000500.7:c.247G>T	NP_000491.4:p.Val83Phe
NM_001128590.3:c.202+142G>T	NP_001122062.3:n.202+142G>T
XM_011514314.1:c.-178G>T	XP_011512616.1:n.-178G>T
NM_000500.9:c.247G>T MANE Select	NP_000491.4:p.Val83Phe
NM_001368143.1:c.-178G>T	NP_001355072.1:n.-178G>T
NM_001368144.1:c.-133+142G>T	NP_001355073.1:n.-133+142G>T
NM_001128590.4:c.202+142G>T	NP_001122062.3:n.202+142G>T
NM_001368143.2:c.-178G>T	NP_001355072.1:n.-178G>T
NM_001368144.2:c.-133+142G>T	NP_001355073.1:n.-133+142G>T