Canonical Allele Identifier: CA363506344

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007836G>C (hg19) ; chr6:g.32040059G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040059G>C , CM000668.2:g.32040059G>C	GRCh38
NC_000006.11:g.32007836G>C , CM000668.1:g.32007836G>C	GRCh37
NC_000006.10:g.32115815G>C	NCBI36
NG_007941.2:g.6752G>C
NG_008337.2:g.74316C>G
NG_007941.3:g.6755G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.793G>C MANE Select	ENSP00000496625.1:p.Val265Leu
ENST00000418967.6:c.793G>C	ENSP00000408860.2:p.Val265Leu
ENST00000435122.3:c.703G>C	ENSP00000415043.2:p.Val235Leu
ENST00000479074.5:n.851G>C
ENST00000479730.5:n.909G>C
ENST00000483041.5:n.962G>C
ENST00000486063.5:n.918+224G>C
NM_000500.7:c.793G>C	NP_000491.4:p.Val265Leu
NM_001128590.3:c.703G>C	NP_001122062.3:p.Val235Leu
XM_011514314.1:c.388G>C	XP_011512616.1:p.Val130Leu
NM_000500.9:c.793G>C MANE Select	NP_000491.4:p.Val265Leu
NM_001368143.1:c.388G>C	NP_001355072.1:p.Val130Leu
NM_001368144.1:c.388G>C	NP_001355073.1:p.Val130Leu
NM_001128590.4:c.703G>C	NP_001122062.3:p.Val235Leu
NM_001368143.2:c.388G>C	NP_001355072.1:p.Val130Leu
NM_001368144.2:c.388G>C	NP_001355073.1:p.Val130Leu