Canonical Allele Identifier: CA363504920

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039784-G-C
• MyVariant Identifiers: chr6:g.32007561G>C (hg19) ; chr6:g.32039784G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039784G>C , CM000668.2:g.32039784G>C	GRCh38
NC_000006.11:g.32007561G>C , CM000668.1:g.32007561G>C	GRCh37
NC_000006.10:g.32115540G>C	NCBI36
NG_007941.2:g.6477G>C
NG_008337.2:g.74591C>G
NG_007941.3:g.6480G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.687G>C MANE Select	ENSP00000496625.1:p.Gln229His
ENST00000418967.6:c.687G>C	ENSP00000408860.2:p.Gln229His
ENST00000435122.3:c.597G>C	ENSP00000415043.2:p.Gln199His
ENST00000462278.1:n.376G>C
ENST00000466779.5:c.*379G>C	ENSP00000417321.1:n.*379G>C
ENST00000466879.5:n.738G>C
ENST00000479074.5:n.745G>C
ENST00000479730.5:n.803G>C
ENST00000483041.5:n.856G>C
ENST00000486063.5:n.867G>C
NM_000500.7:c.687G>C	NP_000491.4:p.Gln229His
NM_001128590.3:c.597G>C	NP_001122062.3:p.Gln199His
XM_011514314.1:c.282G>C	XP_011512616.1:p.Gln94His
NM_000500.9:c.687G>C MANE Select	NP_000491.4:p.Gln229His
NM_001368143.1:c.282G>C	NP_001355072.1:p.Gln94His
NM_001368144.1:c.282G>C	NP_001355073.1:p.Gln94His
NM_001128590.4:c.597G>C	NP_001122062.3:p.Gln199His
NM_001368143.2:c.282G>C	NP_001355072.1:p.Gln94His
NM_001368144.2:c.282G>C	NP_001355073.1:p.Gln94His