Canonical Allele Identifier: CA363502564

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007141A>C (hg19) ; chr6:g.32039364A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039364A>C , CM000668.2:g.32039364A>C	GRCh38
NC_000006.11:g.32007141A>C , CM000668.1:g.32007141A>C	GRCh37
NC_000006.10:g.32115120A>C	NCBI36
NG_007941.2:g.6057A>C
NG_008337.2:g.75011T>G
NG_007941.3:g.6060A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.456A>C MANE Select	ENSP00000496625.1:p.Arg152Ser
ENST00000418967.6:c.456A>C	ENSP00000408860.2:p.Arg152Ser
ENST00000435122.3:c.366A>C	ENSP00000415043.2:p.Arg122Ser
ENST00000462278.1:n.44A>C
ENST00000464325.5:n.377A>C
ENST00000466779.5:c.*148A>C	ENSP00000417321.1:n.*148A>C
ENST00000466879.5:n.507A>C
ENST00000469053.5:c.*148A>C	ENSP00000418104.1:n.*148A>C
ENST00000471671.4:c.456A>C	ENSP00000418561.1:p.Arg152Ser
ENST00000478281.5:c.489A>C	ENSP00000419572.1:p.Arg163Ser
ENST00000479074.5:n.514A>C
ENST00000479730.5:n.611A>C
ENST00000483041.5:n.625A>C
ENST00000486063.5:n.636A>C
ENST00000488465.1:n.464A>C
NM_000500.7:c.456A>C	NP_000491.4:p.Arg152Ser
NM_001128590.3:c.366A>C	NP_001122062.3:p.Arg122Ser
XM_011514314.1:c.51A>C	XP_011512616.1:p.Arg17Ser
NM_000500.9:c.456A>C MANE Select	NP_000491.4:p.Arg152Ser
NM_001368143.1:c.51A>C	NP_001355072.1:p.Arg17Ser
NM_001368144.1:c.51A>C	NP_001355073.1:p.Arg17Ser
NM_001128590.4:c.366A>C	NP_001122062.3:p.Arg122Ser
NM_001368143.2:c.51A>C	NP_001355072.1:p.Arg17Ser
NM_001368144.2:c.51A>C	NP_001355073.1:p.Arg17Ser