Canonical Allele Identifier: CA363512052

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1228433585
• gnomAD v2: 6-32008724-T-C
• gnomAD v4: 6-32040947-T-C
• MyVariant Identifiers: chr6:g.32008724T>C (hg19) ; chr6:g.32040947T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040947T>C , CM000668.2:g.32040947T>C	GRCh38
NC_000006.11:g.32008724T>C , CM000668.1:g.32008724T>C	GRCh37
NC_000006.10:g.32116703T>C	NCBI36
NG_007941.2:g.7640T>C
NG_008337.2:g.73428A>G
NG_007941.3:g.7643T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1301T>C MANE Select	ENSP00000496625.1:p.Leu434Pro
ENST00000418967.6:c.1301T>C	ENSP00000408860.2:p.Leu434Pro
ENST00000435122.3:c.1211T>C	ENSP00000415043.2:p.Leu404Pro
ENST00000479074.5:n.1442T>C
ENST00000479730.5:n.1417T>C
ENST00000483041.5:n.1470T>C
ENST00000486063.5:n.1280T>C
NM_000500.7:c.1301T>C	NP_000491.4:p.Leu434Pro
NM_001128590.3:c.1211T>C	NP_001122062.3:p.Leu404Pro
XM_011514314.1:c.896T>C	XP_011512616.1:p.Leu299Pro
NM_000500.9:c.1301T>C MANE Select	NP_000491.4:p.Leu434Pro
NM_001368143.1:c.896T>C	NP_001355072.1:p.Leu299Pro
NM_001368144.1:c.896T>C	NP_001355073.1:p.Leu299Pro
NM_001128590.4:c.1211T>C	NP_001122062.3:p.Leu404Pro
NM_001368143.2:c.896T>C	NP_001355072.1:p.Leu299Pro
NM_001368144.2:c.896T>C	NP_001355073.1:p.Leu299Pro