Canonical Allele Identifier: CA1087498290

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776025577
• gnomAD v3: 6-32038851-T-C
• gnomAD v4: 6-32038851-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038851T>C , CM000668.2:g.32038851T>C	GRCh38
NC_000006.11:g.32006628T>C , CM000668.1:g.32006628T>C	GRCh37
NC_000006.10:g.32114607T>C	NCBI36
NG_007941.2:g.5544T>C
NG_007941.3:g.5547T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.292+40T>C MANE Select	ENSP00000496625.1:n.292+40T>C
ENST00000418967.6:c.292+40T>C	ENSP00000408860.2:n.292+40T>C
ENST00000435122.3:c.202+227T>C	ENSP00000415043.2:n.202+227T>C
ENST00000464325.5:n.229+40T>C
ENST00000466779.5:c.292+40T>C	ENSP00000417321.1:n.292+40T>C
ENST00000466879.5:n.101T>C
ENST00000469053.5:c.203-224T>C	ENSP00000418104.1:n.203-224T>C
ENST00000471671.4:c.292+40T>C	ENSP00000418561.1:n.292+40T>C
ENST00000478281.5:c.292+40T>C	ENSP00000419572.1:n.292+40T>C
ENST00000479074.5:n.350+40T>C
ENST00000479730.5:n.447+40T>C
ENST00000480027.1:n.385T>C
ENST00000483041.5:n.442+40T>C
ENST00000486063.5:n.472+40T>C
ENST00000488465.1:n.300+40T>C
NM_000500.7:c.292+40T>C	NP_000491.4:n.292+40T>C
NM_001128590.3:c.202+227T>C	NP_001122062.3:n.202+227T>C
XM_011514314.1:c.-133+40T>C	XP_011512616.1:n.-133+40T>C
NM_000500.9:c.292+40T>C MANE Select	NP_000491.4:n.292+40T>C
NM_001368143.1:c.-133+40T>C	NP_001355072.1:n.-133+40T>C
NM_001368144.1:c.-132-224T>C	NP_001355073.1:n.-132-224T>C
NM_001128590.4:c.202+227T>C	NP_001122062.3:n.202+227T>C
NM_001368143.2:c.-133+40T>C	NP_001355072.1:n.-133+40T>C
NM_001368144.2:c.-132-224T>C	NP_001355073.1:n.-132-224T>C