Canonical Allele Identifier: CA449818913

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1186690130
• gnomAD v2: 6-32008704-C-T
• gnomAD v4: 6-32040927-C-T
• MyVariant Identifiers: chr6:g.32008704C>T (hg19) ; chr6:g.32008704_32008705delinsTG (hg19) ; chr6:g.32040927_32040928delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040927C>T , CM000668.2:g.32040927C>T	GRCh38
NC_000006.11:g.32008704C>T , CM000668.1:g.32008704C>T	GRCh37
NC_000006.10:g.32116683C>T	NCBI36
NG_007941.2:g.7620C>T
NG_008337.2:g.73448G>A
NG_007941.3:g.7623C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1281C>T MANE Select	ENSP00000496625.1:p.Arg427=
ENST00000418967.6:c.1281C>T	ENSP00000408860.2:p.Arg427=
ENST00000435122.3:c.1191C>T	ENSP00000415043.2:p.Arg397=
ENST00000479074.5:n.1422C>T
ENST00000479730.5:n.1397C>T
ENST00000483041.5:n.1450C>T
ENST00000486063.5:n.1260C>T
NM_000500.7:c.1281C>T	NP_000491.4:p.Arg427=
NM_001128590.3:c.1191C>T	NP_001122062.3:p.Arg397=
XM_011514314.1:c.876C>T	XP_011512616.1:p.Arg292=
NM_000500.9:c.1281C>T MANE Select	NP_000491.4:p.Arg427=
NM_001368143.1:c.876C>T	NP_001355072.1:p.Arg292=
NM_001368144.1:c.876C>T	NP_001355073.1:p.Arg292=
NM_001128590.4:c.1191C>T	NP_001122062.3:p.Arg397=
NM_001368143.2:c.876C>T	NP_001355072.1:p.Arg292=
NM_001368144.2:c.876C>T	NP_001355073.1:p.Arg292=