Canonical Allele Identifier: CA363511389

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1415650914
• gnomAD v2: 6-32008526-G-C
• gnomAD v4: 6-32040749-G-C
• MyVariant Identifiers: chr6:g.32008526G>C (hg19) ; chr6:g.32040749G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040749G>C , CM000668.2:g.32040749G>C	GRCh38
NC_000006.11:g.32008526G>C , CM000668.1:g.32008526G>C	GRCh37
NC_000006.10:g.32116505G>C	NCBI36
NG_007941.2:g.7442G>C
NG_008337.2:g.73626C>G
NG_007941.3:g.7445G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1200G>C MANE Select	ENSP00000496625.1:p.Glu400Asp
ENST00000418967.6:c.1200G>C	ENSP00000408860.2:p.Glu400Asp
ENST00000435122.3:c.1110G>C	ENSP00000415043.2:p.Glu370Asp
ENST00000479074.5:n.1341G>C
ENST00000479730.5:n.1316G>C
ENST00000483041.5:n.1369G>C
ENST00000486063.5:n.1179G>C
NM_000500.7:c.1200G>C	NP_000491.4:p.Glu400Asp
NM_001128590.3:c.1110G>C	NP_001122062.3:p.Glu370Asp
XM_011514314.1:c.795G>C	XP_011512616.1:p.Glu265Asp
NM_000500.9:c.1200G>C MANE Select	NP_000491.4:p.Glu400Asp
NM_001368143.1:c.795G>C	NP_001355072.1:p.Glu265Asp
NM_001368144.1:c.795G>C	NP_001355073.1:p.Glu265Asp
NM_001128590.4:c.1110G>C	NP_001122062.3:p.Glu370Asp
NM_001368143.2:c.795G>C	NP_001355072.1:p.Glu265Asp
NM_001368144.2:c.795G>C	NP_001355073.1:p.Glu265Asp