Canonical Allele Identifier: CA363504597

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1343543719
• gnomAD v2: 6-32007535-A-G
• MyVariant Identifiers: chr6:g.32007535A>G (hg19) ; chr6:g.32039758A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039758A>G , CM000668.2:g.32039758A>G	GRCh38
NC_000006.11:g.32007535A>G , CM000668.1:g.32007535A>G	GRCh37
NC_000006.10:g.32115514A>G	NCBI36
NG_007941.2:g.6451A>G
NG_008337.2:g.74617T>C
NG_007941.3:g.6454A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.661A>G MANE Select	ENSP00000496625.1:p.Asn221Asp
ENST00000418967.6:c.661A>G	ENSP00000408860.2:p.Asn221Asp
ENST00000435122.3:c.571A>G	ENSP00000415043.2:p.Asn191Asp
ENST00000462278.1:n.350A>G
ENST00000466779.5:c.*353A>G	ENSP00000417321.1:n.*353A>G
ENST00000466879.5:n.712A>G
ENST00000479074.5:n.719A>G
ENST00000479730.5:n.777A>G
ENST00000483041.5:n.830A>G
ENST00000486063.5:n.841A>G
NM_000500.7:c.661A>G	NP_000491.4:p.Asn221Asp
NM_001128590.3:c.571A>G	NP_001122062.3:p.Asn191Asp
XM_011514314.1:c.256A>G	XP_011512616.1:p.Asn86Asp
NM_000500.9:c.661A>G MANE Select	NP_000491.4:p.Asn221Asp
NM_001368143.1:c.256A>G	NP_001355072.1:p.Asn86Asp
NM_001368144.1:c.256A>G	NP_001355073.1:p.Asn86Asp
NM_001128590.4:c.571A>G	NP_001122062.3:p.Asn191Asp
NM_001368143.2:c.256A>G	NP_001355072.1:p.Asn86Asp
NM_001368144.2:c.256A>G	NP_001355073.1:p.Asn86Asp