Canonical Allele Identifier: CA2711462282
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs2151871140

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038915T>C , CM000668.2:g.32038915T>C GRCh38
NC_000006.11:g.32006692T>C , CM000668.1:g.32006692T>C GRCh37
NC_000006.10:g.32114671T>C NCBI36
NG_007941.2:g.5608T>C
NG_007941.3:g.5611T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.292+104T>C MANE Select ENSP00000496625.1:n.292+104T>C
ENST00000418967.6:c.292+104T>C ENSP00000408860.2:n.292+104T>C
ENST00000435122.3:c.203-179T>C ENSP00000415043.2:n.203-179T>C
ENST00000464325.5:n.229+104T>C
ENST00000466779.5:c.292+104T>C ENSP00000417321.1:n.292+104T>C
ENST00000466879.5:n.165T>C
ENST00000469053.5:c.203-160T>C ENSP00000418104.1:n.203-160T>C
ENST00000471671.4:c.292+104T>C ENSP00000418561.1:n.292+104T>C
ENST00000478281.5:c.292+104T>C ENSP00000419572.1:n.292+104T>C
ENST00000479074.5:n.350+104T>C
ENST00000479730.5:n.447+104T>C
ENST00000480027.1:n.449T>C
ENST00000483041.5:n.442+104T>C
ENST00000486063.5:n.472+104T>C
ENST00000488465.1:n.300+104T>C
NM_000500.7:c.292+104T>C NP_000491.4:n.292+104T>C
NM_001128590.3:c.203-179T>C NP_001122062.3:n.203-179T>C
XM_011514314.1:c.-133+104T>C XP_011512616.1:n.-133+104T>C
NM_000500.9:c.292+104T>C MANE Select NP_000491.4:n.292+104T>C
NM_001368143.1:c.-133+104T>C NP_001355072.1:n.-133+104T>C
NM_001368144.1:c.-132-160T>C NP_001355073.1:n.-132-160T>C
NM_001128590.4:c.203-179T>C NP_001122062.3:n.203-179T>C
NM_001368143.2:c.-133+104T>C NP_001355072.1:n.-133+104T>C
NM_001368144.2:c.-132-160T>C NP_001355073.1:n.-132-160T>C