Canonical Allele Identifier: CA2578618059

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039713C>T , CM000668.2:g.32039713C>T	GRCh38
NC_000006.11:g.32007490C>T , CM000668.1:g.32007490C>T	GRCh37
NC_000006.10:g.32115469C>T	NCBI36
NG_007941.2:g.6406C>T
NG_008337.2:g.74662G>A
NG_007941.3:g.6409C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.652-36C>T MANE Select	ENSP00000496625.1:n.652-36C>T
ENST00000418967.6:c.652-36C>T	ENSP00000408860.2:n.652-36C>T
ENST00000435122.3:c.562-36C>T	ENSP00000415043.2:n.562-36C>T
ENST00000462278.1:n.305C>T
ENST00000464325.5:n.573-36C>T
ENST00000466779.5:c.*344-36C>T	ENSP00000417321.1:n.*344-36C>T
ENST00000466879.5:n.703-36C>T
ENST00000479074.5:n.710-36C>T
ENST00000479730.5:n.768-36C>T
ENST00000483041.5:n.821-36C>T
ENST00000486063.5:n.832-36C>T
NM_000500.7:c.652-36C>T	NP_000491.4:n.652-36C>T
NM_001128590.3:c.562-36C>T	NP_001122062.3:n.562-36C>T
XM_011514314.1:c.247-36C>T	XP_011512616.1:n.247-36C>T
NM_000500.9:c.652-36C>T MANE Select	NP_000491.4:n.652-36C>T
NM_001368143.1:c.247-36C>T	NP_001355072.1:n.247-36C>T
NM_001368144.1:c.247-36C>T	NP_001355073.1:n.247-36C>T
NM_001128590.4:c.562-36C>T	NP_001122062.3:n.562-36C>T
NM_001368143.2:c.247-36C>T	NP_001355072.1:n.247-36C>T
NM_001368144.2:c.247-36C>T	NP_001355073.1:n.247-36C>T