Canonical Allele Identifier: CA566693897

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1300248858
• gnomAD v2: 6-32007430-G-C
• gnomAD v4: 6-32039653-G-C
• MyVariant Identifiers: chr6:g.32007430G>C (hg19) ; chr6:g.32039653G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039653G>C , CM000668.2:g.32039653G>C	GRCh38
NC_000006.11:g.32007430G>C , CM000668.1:g.32007430G>C	GRCh37
NC_000006.10:g.32115409G>C	NCBI36
NG_007941.2:g.6346G>C
NG_008337.2:g.74722C>G
NG_007941.3:g.6349G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.651+6G>C MANE Select	ENSP00000496625.1:n.651+6G>C
ENST00000418967.6:c.651+6G>C	ENSP00000408860.2:n.651+6G>C
ENST00000435122.3:c.561+6G>C	ENSP00000415043.2:n.561+6G>C
ENST00000462278.1:n.245G>C
ENST00000464325.5:n.572+6G>C
ENST00000466779.5:c.*343+6G>C	ENSP00000417321.1:n.*343+6G>C
ENST00000466879.5:n.702+6G>C
ENST00000479074.5:n.709+6G>C
ENST00000479730.5:n.767+6G>C
ENST00000483041.5:n.820+6G>C
ENST00000486063.5:n.831+6G>C
NM_000500.7:c.651+6G>C	NP_000491.4:n.651+6G>C
NM_001128590.3:c.561+6G>C	NP_001122062.3:n.561+6G>C
XM_011514314.1:c.246+6G>C	XP_011512616.1:n.246+6G>C
NM_000500.9:c.651+6G>C MANE Select	NP_000491.4:n.651+6G>C
NM_001368143.1:c.246+6G>C	NP_001355072.1:n.246+6G>C
NM_001368144.1:c.246+6G>C	NP_001355073.1:n.246+6G>C
NM_001128590.4:c.561+6G>C	NP_001122062.3:n.561+6G>C
NM_001368143.2:c.246+6G>C	NP_001355072.1:n.246+6G>C
NM_001368144.2:c.246+6G>C	NP_001355073.1:n.246+6G>C