Canonical Allele Identifier: CA363504353

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039646-G-T
• MyVariant Identifiers: chr6:g.32007423G>T (hg19) ; chr6:g.32039646G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039646G>T , CM000668.2:g.32039646G>T	GRCh38
NC_000006.11:g.32007423G>T , CM000668.1:g.32007423G>T	GRCh37
NC_000006.10:g.32115402G>T	NCBI36
NG_007941.2:g.6339G>T
NG_008337.2:g.74729C>A
NG_007941.3:g.6342G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.650G>T MANE Select	ENSP00000496625.1:p.Arg217Met
ENST00000418967.6:c.650G>T	ENSP00000408860.2:p.Arg217Met
ENST00000435122.3:c.560G>T	ENSP00000415043.2:p.Arg187Met
ENST00000462278.1:n.238G>T
ENST00000464325.5:n.571G>T
ENST00000466779.5:c.*342G>T	ENSP00000417321.1:n.*342G>T
ENST00000466879.5:n.701G>T
ENST00000479074.5:n.708G>T
ENST00000479730.5:n.766G>T
ENST00000483041.5:n.819G>T
ENST00000486063.5:n.830G>T
NM_000500.7:c.650G>T	NP_000491.4:p.Arg217Met
NM_001128590.3:c.560G>T	NP_001122062.3:p.Arg187Met
XM_011514314.1:c.245G>T	XP_011512616.1:p.Arg82Met
NM_000500.9:c.650G>T MANE Select	NP_000491.4:p.Arg217Met
NM_001368143.1:c.245G>T	NP_001355072.1:p.Arg82Met
NM_001368144.1:c.245G>T	NP_001355073.1:p.Arg82Met
NM_001128590.4:c.560G>T	NP_001122062.3:p.Arg187Met
NM_001368143.2:c.245G>T	NP_001355072.1:p.Arg82Met
NM_001368144.2:c.245G>T	NP_001355073.1:p.Arg82Met