Canonical Allele Identifier: CA449818702

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039590-G-T
• MyVariant Identifiers: chr6:g.32007367G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039590G>T , CM000668.2:g.32039590G>T	GRCh38
NC_000006.11:g.32007367G>T , CM000668.1:g.32007367G>T	GRCh37
NC_000006.10:g.32115346G>T	NCBI36
NG_007941.2:g.6283G>T
NG_008337.2:g.74785C>A
NG_007941.3:g.6286G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.594G>T MANE Select	ENSP00000496625.1:p.Val198=
ENST00000418967.6:c.594G>T	ENSP00000408860.2:p.Val198=
ENST00000435122.3:c.504G>T	ENSP00000415043.2:p.Val168=
ENST00000462278.1:n.182G>T
ENST00000464325.5:n.515G>T
ENST00000466779.5:c.*286G>T	ENSP00000417321.1:n.*286G>T
ENST00000466879.5:n.645G>T
ENST00000469053.5:c.*286G>T	ENSP00000418104.1:n.*286G>T
ENST00000471671.4:c.555G>T	ENSP00000418561.1:p.Val185=
ENST00000479074.5:n.652G>T
ENST00000479730.5:n.710G>T
ENST00000483041.5:n.763G>T
ENST00000486063.5:n.774G>T
NM_000500.7:c.594G>T	NP_000491.4:p.Val198=
NM_001128590.3:c.504G>T	NP_001122062.3:p.Val168=
XM_011514314.1:c.189G>T	XP_011512616.1:p.Val63=
NM_000500.9:c.594G>T MANE Select	NP_000491.4:p.Val198=
NM_001368143.1:c.189G>T	NP_001355072.1:p.Val63=
NM_001368144.1:c.189G>T	NP_001355073.1:p.Val63=
NM_001128590.4:c.504G>T	NP_001122062.3:p.Val168=
NM_001368143.2:c.189G>T	NP_001355072.1:p.Val63=
NM_001368144.2:c.189G>T	NP_001355073.1:p.Val63=