Canonical Allele Identifier: CA363504339

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007419C>T (hg19) ; chr6:g.32039642C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039642C>T , CM000668.2:g.32039642C>T	GRCh38
NC_000006.11:g.32007419C>T , CM000668.1:g.32007419C>T	GRCh37
NC_000006.10:g.32115398C>T	NCBI36
NG_007941.2:g.6335C>T
NG_008337.2:g.74733G>A
NG_007941.3:g.6338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.646C>T MANE Select	ENSP00000496625.1:p.Leu216Phe
ENST00000418967.6:c.646C>T	ENSP00000408860.2:p.Leu216Phe
ENST00000435122.3:c.556C>T	ENSP00000415043.2:p.Leu186Phe
ENST00000462278.1:n.234C>T
ENST00000464325.5:n.567C>T
ENST00000466779.5:c.*338C>T	ENSP00000417321.1:n.*338C>T
ENST00000466879.5:n.697C>T
ENST00000479074.5:n.704C>T
ENST00000479730.5:n.762C>T
ENST00000483041.5:n.815C>T
ENST00000486063.5:n.826C>T
NM_000500.7:c.646C>T	NP_000491.4:p.Leu216Phe
NM_001128590.3:c.556C>T	NP_001122062.3:p.Leu186Phe
XM_011514314.1:c.241C>T	XP_011512616.1:p.Leu81Phe
NM_000500.9:c.646C>T MANE Select	NP_000491.4:p.Leu216Phe
NM_001368143.1:c.241C>T	NP_001355072.1:p.Leu81Phe
NM_001368144.1:c.241C>T	NP_001355073.1:p.Leu81Phe
NM_001128590.4:c.556C>T	NP_001122062.3:p.Leu186Phe
NM_001368143.2:c.241C>T	NP_001355072.1:p.Leu81Phe
NM_001368144.2:c.241C>T	NP_001355073.1:p.Leu81Phe