Canonical Allele Identifier: CA449728546

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039101-G-C
• MyVariant Identifiers: chr6:g.32006878G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039101G>C , CM000668.2:g.32039101G>C	GRCh38
NC_000006.11:g.32006878G>C , CM000668.1:g.32006878G>C	GRCh37
NC_000006.10:g.32114857G>C	NCBI36
NG_007941.2:g.5794G>C
NG_007941.3:g.5797G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.300G>C MANE Select	ENSP00000496625.1:p.Leu100=
ENST00000418967.6:c.300G>C	ENSP00000408860.2:p.Leu100=
ENST00000435122.3:c.210G>C	ENSP00000415043.2:p.Leu70=
ENST00000464325.5:n.230-9G>C
ENST00000466779.5:c.319G>C	ENSP00000417321.1:p.Gly107Arg
ENST00000466879.5:n.351G>C
ENST00000469053.5:c.229G>C	ENSP00000418104.1:p.Gly77Arg
ENST00000471671.4:c.300G>C	ENSP00000418561.1:p.Leu100=
ENST00000478281.5:c.333G>C	ENSP00000419572.1:p.Leu111=
ENST00000479074.5:n.358G>C
ENST00000479730.5:n.455G>C
ENST00000480027.1:n.635G>C
ENST00000483041.5:n.469G>C
ENST00000486063.5:n.480G>C
ENST00000488465.1:n.308G>C
NM_000500.7:c.300G>C	NP_000491.4:p.Leu100=
NM_001128590.3:c.210G>C	NP_001122062.3:p.Leu70=
XM_011514314.1:c.-106G>C	XP_011512616.1:n.-106G>C
NM_000500.9:c.300G>C MANE Select	NP_000491.4:p.Leu100=
NM_001368143.1:c.-106G>C	NP_001355072.1:n.-106G>C
NM_001368144.1:c.-106G>C	NP_001355073.1:n.-106G>C
NM_001128590.4:c.210G>C	NP_001122062.3:p.Leu70=
NM_001368143.2:c.-106G>C	NP_001355072.1:n.-106G>C
NM_001368144.2:c.-106G>C	NP_001355073.1:n.-106G>C