Canonical Allele Identifier: CA1087498820

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776136914
• gnomAD v3: 6-32039715-T-C
• gnomAD v4: 6-32039715-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039715T>C , CM000668.2:g.32039715T>C	GRCh38
NC_000006.11:g.32007492T>C , CM000668.1:g.32007492T>C	GRCh37
NC_000006.10:g.32115471T>C	NCBI36
NG_007941.2:g.6408T>C
NG_008337.2:g.74660A>G
NG_007941.3:g.6411T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.652-34T>C MANE Select	ENSP00000496625.1:n.652-34T>C
ENST00000418967.6:c.652-34T>C	ENSP00000408860.2:n.652-34T>C
ENST00000435122.3:c.562-34T>C	ENSP00000415043.2:n.562-34T>C
ENST00000462278.1:n.307T>C
ENST00000464325.5:n.573-34T>C
ENST00000466779.5:c.*344-34T>C	ENSP00000417321.1:n.*344-34T>C
ENST00000466879.5:n.703-34T>C
ENST00000479074.5:n.710-34T>C
ENST00000479730.5:n.768-34T>C
ENST00000483041.5:n.821-34T>C
ENST00000486063.5:n.832-34T>C
NM_000500.7:c.652-34T>C	NP_000491.4:n.652-34T>C
NM_001128590.3:c.562-34T>C	NP_001122062.3:n.562-34T>C
XM_011514314.1:c.247-34T>C	XP_011512616.1:n.247-34T>C
NM_000500.9:c.652-34T>C MANE Select	NP_000491.4:n.652-34T>C
NM_001368143.1:c.247-34T>C	NP_001355072.1:n.247-34T>C
NM_001368144.1:c.247-34T>C	NP_001355073.1:n.247-34T>C
NM_001128590.4:c.562-34T>C	NP_001122062.3:n.562-34T>C
NM_001368143.2:c.247-34T>C	NP_001355072.1:n.247-34T>C
NM_001368144.2:c.247-34T>C	NP_001355073.1:n.247-34T>C