Canonical Allele Identifier: CA449818813

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 988286
• ClinVar RCV Id: RCV001269538
• dbSNP Id: rs1776234662
• MyVariant Identifiers: chr6:g.32008309C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040532C>T , CM000668.2:g.32040532C>T	GRCh38
NC_000006.11:g.32008309C>T , CM000668.1:g.32008309C>T	GRCh37
NC_000006.10:g.32116288C>T	NCBI36
NG_007941.2:g.7225C>T
NG_008337.2:g.73843G>A
NG_007941.3:g.7228C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1066C>T MANE Select	ENSP00000496625.1:p.Leu356=
ENST00000418967.6:c.1066C>T	ENSP00000408860.2:p.Leu356=
ENST00000435122.3:c.976C>T	ENSP00000415043.2:p.Leu326=
ENST00000479074.5:n.1124C>T
ENST00000479730.5:n.1182C>T
ENST00000483041.5:n.1235C>T
ENST00000486063.5:n.1045C>T
NM_000500.7:c.1066C>T	NP_000491.4:p.Leu356=
NM_001128590.3:c.976C>T	NP_001122062.3:p.Leu326=
XM_011514314.1:c.661C>T	XP_011512616.1:p.Leu221=
NM_000500.9:c.1066C>T MANE Select	NP_000491.4:p.Leu356=
NM_001368143.1:c.661C>T	NP_001355072.1:p.Leu221=
NM_001368144.1:c.661C>T	NP_001355073.1:p.Leu221=
NM_001128590.4:c.976C>T	NP_001122062.3:p.Leu326=
NM_001368143.2:c.661C>T	NP_001355072.1:p.Leu221=
NM_001368144.2:c.661C>T	NP_001355073.1:p.Leu221=