Canonical Allele Identifier: CA363500962

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32006910G>C (hg19) ; chr6:g.32039133G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039133G>C , CM000668.2:g.32039133G>C	GRCh38
NC_000006.11:g.32006910G>C , CM000668.1:g.32006910G>C	GRCh37
NC_000006.10:g.32114889G>C	NCBI36
NG_007941.2:g.5826G>C
NG_007941.3:g.5829G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.332G>C MANE Select	ENSP00000496625.1:p.Gly111Ala
ENST00000418967.6:c.332G>C	ENSP00000408860.2:p.Gly111Ala
ENST00000435122.3:c.242G>C	ENSP00000415043.2:p.Gly81Ala
ENST00000464325.5:n.253G>C
ENST00000466779.5:c.*24G>C	ENSP00000417321.1:n.*24G>C
ENST00000466879.5:n.383G>C
ENST00000469053.5:c.*24G>C	ENSP00000418104.1:n.*24G>C
ENST00000471671.4:c.332G>C	ENSP00000418561.1:p.Gly111Ala
ENST00000478281.5:c.365G>C	ENSP00000419572.1:p.Gly122Ala
ENST00000479074.5:n.390G>C
ENST00000479730.5:n.487G>C
ENST00000483041.5:n.501G>C
ENST00000486063.5:n.512G>C
ENST00000488465.1:n.340G>C
NM_000500.7:c.332G>C	NP_000491.4:p.Gly111Ala
NM_001128590.3:c.242G>C	NP_001122062.3:p.Gly81Ala
XM_011514314.1:c.-74G>C	XP_011512616.1:n.-74G>C
NM_000500.9:c.332G>C MANE Select	NP_000491.4:p.Gly111Ala
NM_001368143.1:c.-74G>C	NP_001355072.1:n.-74G>C
NM_001368144.1:c.-74G>C	NP_001355073.1:n.-74G>C
NM_001128590.4:c.242G>C	NP_001122062.3:p.Gly81Ala
NM_001368143.2:c.-74G>C	NP_001355072.1:n.-74G>C
NM_001368144.2:c.-74G>C	NP_001355073.1:n.-74G>C