Canonical Allele Identifier: CA2678088456

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32038867-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038867T>C , CM000668.2:g.32038867T>C	GRCh38
NC_000006.11:g.32006644T>C , CM000668.1:g.32006644T>C	GRCh37
NC_000006.10:g.32114623T>C	NCBI36
NG_007941.2:g.5560T>C
NG_007941.3:g.5563T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.292+56T>C MANE Select	ENSP00000496625.1:n.292+56T>C
ENST00000418967.6:c.292+56T>C	ENSP00000408860.2:n.292+56T>C
ENST00000435122.3:c.203-227T>C	ENSP00000415043.2:n.203-227T>C
ENST00000464325.5:n.229+56T>C
ENST00000466779.5:c.292+56T>C	ENSP00000417321.1:n.292+56T>C
ENST00000466879.5:n.117T>C
ENST00000469053.5:c.203-208T>C	ENSP00000418104.1:n.203-208T>C
ENST00000471671.4:c.292+56T>C	ENSP00000418561.1:n.292+56T>C
ENST00000478281.5:c.292+56T>C	ENSP00000419572.1:n.292+56T>C
ENST00000479074.5:n.350+56T>C
ENST00000479730.5:n.447+56T>C
ENST00000480027.1:n.401T>C
ENST00000483041.5:n.442+56T>C
ENST00000486063.5:n.472+56T>C
ENST00000488465.1:n.300+56T>C
NM_000500.7:c.292+56T>C	NP_000491.4:n.292+56T>C
NM_001128590.3:c.203-227T>C	NP_001122062.3:n.203-227T>C
XM_011514314.1:c.-133+56T>C	XP_011512616.1:n.-133+56T>C
NM_000500.9:c.292+56T>C MANE Select	NP_000491.4:n.292+56T>C
NM_001368143.1:c.-133+56T>C	NP_001355072.1:n.-133+56T>C
NM_001368144.1:c.-132-208T>C	NP_001355073.1:n.-132-208T>C
NM_001128590.4:c.203-227T>C	NP_001122062.3:n.203-227T>C
NM_001368143.2:c.-133+56T>C	NP_001355072.1:n.-133+56T>C
NM_001368144.2:c.-132-208T>C	NP_001355073.1:n.-132-208T>C