Canonical Allele Identifier: CA363503886

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039600-T-C
• MyVariant Identifiers: chr6:g.32007377T>C (hg19) ; chr6:g.32039600T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039600T>C , CM000668.2:g.32039600T>C	GRCh38
NC_000006.11:g.32007377T>C , CM000668.1:g.32007377T>C	GRCh37
NC_000006.10:g.32115356T>C	NCBI36
NG_007941.2:g.6293T>C
NG_008337.2:g.74775A>G
NG_007941.3:g.6296T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.604T>C MANE Select	ENSP00000496625.1:p.Trp202Arg
ENST00000418967.6:c.604T>C	ENSP00000408860.2:p.Trp202Arg
ENST00000435122.3:c.514T>C	ENSP00000415043.2:p.Trp172Arg
ENST00000462278.1:n.192T>C
ENST00000464325.5:n.525T>C
ENST00000466779.5:c.*296T>C	ENSP00000417321.1:n.*296T>C
ENST00000466879.5:n.655T>C
ENST00000469053.5:c.*296T>C	ENSP00000418104.1:n.*296T>C
ENST00000471671.4:c.565T>C	ENSP00000418561.1:p.Trp189Arg
ENST00000479074.5:n.662T>C
ENST00000479730.5:n.720T>C
ENST00000483041.5:n.773T>C
ENST00000486063.5:n.784T>C
NM_000500.7:c.604T>C	NP_000491.4:p.Trp202Arg
NM_001128590.3:c.514T>C	NP_001122062.3:p.Trp172Arg
XM_011514314.1:c.199T>C	XP_011512616.1:p.Trp67Arg
NM_000500.9:c.604T>C MANE Select	NP_000491.4:p.Trp202Arg
NM_001368143.1:c.199T>C	NP_001355072.1:p.Trp67Arg
NM_001368144.1:c.199T>C	NP_001355073.1:p.Trp67Arg
NM_001128590.4:c.514T>C	NP_001122062.3:p.Trp172Arg
NM_001368143.2:c.199T>C	NP_001355072.1:p.Trp67Arg
NM_001368144.2:c.199T>C	NP_001355073.1:p.Trp67Arg