Canonical Allele Identifier: CA3732678

Gene: CYP21A2

Linked Data

• dbSNP Id: rs777651171
• ExAC: 6:32008560 G / C
• gnomAD v2: 6-32008560-G-C
• gnomAD v3: 6-32040783-G-C
• gnomAD v4: 6-32040783-G-C
• MyVariant Identifiers: chr6:g.32008560G>C (hg19) ; chr6:g.32008560_32008561delinsCC (hg19) ; chr6:g.32040783G>C (hg38) ; chr6:g.32040783_32040784delinsCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040783G>C , CM000668.2:g.32040783G>C	GRCh38
NC_000006.11:g.32008560G>C , CM000668.1:g.32008560G>C	GRCh37
NC_000006.10:g.32116539G>C	NCBI36
NG_007941.2:g.7476G>C
NG_008337.2:g.73592C>G
NG_007941.3:g.7479G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1222+12G>C MANE Select	ENSP00000496625.1:n.1222+12G>C
ENST00000418967.6:c.1222+12G>C	ENSP00000408860.2:n.1222+12G>C
ENST00000435122.3:c.1132+12G>C	ENSP00000415043.2:n.1132+12G>C
ENST00000479074.5:n.1363+12G>C
ENST00000479730.5:n.1338+12G>C
ENST00000483041.5:n.1391+12G>C
ENST00000486063.5:n.1201+12G>C
NM_000500.7:c.1222+12G>C	NP_000491.4:n.1222+12G>C
NM_001128590.3:c.1132+12G>C	NP_001122062.3:n.1132+12G>C
XM_011514314.1:c.817+12G>C	XP_011512616.1:n.817+12G>C
NM_000500.9:c.1222+12G>C MANE Select	NP_000491.4:n.1222+12G>C
NM_001368143.1:c.817+12G>C	NP_001355072.1:n.817+12G>C
NM_001368144.1:c.817+12G>C	NP_001355073.1:n.817+12G>C
NM_001128590.4:c.1132+12G>C	NP_001122062.3:n.1132+12G>C
NM_001368143.2:c.817+12G>C	NP_001355072.1:n.817+12G>C
NM_001368144.2:c.817+12G>C	NP_001355073.1:n.817+12G>C