Canonical Allele Identifier: CA3732451

Gene: CYP21A2

Linked Data

• dbSNP Id: rs565829460
• ExAC: 6:32007395 C / T
• gnomAD v2: 6-32007395-C-T
• gnomAD v3: 6-32039618-C-T
• gnomAD v4: 6-32039618-C-T
• MyVariant Identifiers: chr6:g.32007395C>T (hg19) ; chr6:g.32039618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039618C>T , CM000668.2:g.32039618C>T	GRCh38
NC_000006.11:g.32007395C>T , CM000668.1:g.32007395C>T	GRCh37
NC_000006.10:g.32115374C>T	NCBI36
NG_007941.2:g.6311C>T
NG_008337.2:g.74757G>A
NG_007941.3:g.6314C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.622C>T MANE Select	ENSP00000496625.1:p.Gln208Ter
ENST00000418967.6:c.622C>T	ENSP00000408860.2:p.Gln208Ter
ENST00000435122.3:c.532C>T	ENSP00000415043.2:p.Gln178Ter
ENST00000462278.1:n.210C>T
ENST00000464325.5:n.543C>T
ENST00000466779.5:c.*314C>T	ENSP00000417321.1:n.*314C>T
ENST00000466879.5:n.673C>T
ENST00000469053.5:c.*314C>T	ENSP00000418104.1:n.*314C>T
ENST00000479074.5:n.680C>T
ENST00000479730.5:n.738C>T
ENST00000483041.5:n.791C>T
ENST00000486063.5:n.802C>T
NM_000500.7:c.622C>T	NP_000491.4:p.Gln208Ter
NM_001128590.3:c.532C>T	NP_001122062.3:p.Gln178Ter
XM_011514314.1:c.217C>T	XP_011512616.1:p.Gln73Ter
NM_000500.9:c.622C>T MANE Select	NP_000491.4:p.Gln208Ter
NM_001368143.1:c.217C>T	NP_001355072.1:p.Gln73Ter
NM_001368144.1:c.217C>T	NP_001355073.1:p.Gln73Ter
NM_001128590.4:c.532C>T	NP_001122062.3:p.Gln178Ter
NM_001368143.2:c.217C>T	NP_001355072.1:p.Gln73Ter
NM_001368144.2:c.217C>T	NP_001355073.1:p.Gln73Ter