Canonical Allele Identifier: CA363502691

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007160G>C (hg19) ; chr6:g.32039383G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039383G>C , CM000668.2:g.32039383G>C	GRCh38
NC_000006.11:g.32007160G>C , CM000668.1:g.32007160G>C	GRCh37
NC_000006.10:g.32115139G>C	NCBI36
NG_007941.2:g.6076G>C
NG_008337.2:g.74992C>G
NG_007941.3:g.6079G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.475G>C MANE Select	ENSP00000496625.1:p.Val159Leu
ENST00000418967.6:c.475G>C	ENSP00000408860.2:p.Val159Leu
ENST00000435122.3:c.385G>C	ENSP00000415043.2:p.Val129Leu
ENST00000462278.1:n.63G>C
ENST00000464325.5:n.396G>C
ENST00000466779.5:c.*167G>C	ENSP00000417321.1:n.*167G>C
ENST00000466879.5:n.526G>C
ENST00000469053.5:c.*167G>C	ENSP00000418104.1:n.*167G>C
ENST00000471671.4:c.475G>C	ENSP00000418561.1:p.Val159Leu
ENST00000478281.5:c.508G>C	ENSP00000419572.1:p.Val170Leu
ENST00000479074.5:n.533G>C
ENST00000479730.5:n.630G>C
ENST00000483041.5:n.644G>C
ENST00000486063.5:n.655G>C
ENST00000488465.1:n.483G>C
NM_000500.7:c.475G>C	NP_000491.4:p.Val159Leu
NM_001128590.3:c.385G>C	NP_001122062.3:p.Val129Leu
XM_011514314.1:c.70G>C	XP_011512616.1:p.Val24Leu
NM_000500.9:c.475G>C MANE Select	NP_000491.4:p.Val159Leu
NM_001368143.1:c.70G>C	NP_001355072.1:p.Val24Leu
NM_001368144.1:c.70G>C	NP_001355073.1:p.Val24Leu
NM_001128590.4:c.385G>C	NP_001122062.3:p.Val129Leu
NM_001368143.2:c.70G>C	NP_001355072.1:p.Val24Leu
NM_001368144.2:c.70G>C	NP_001355073.1:p.Val24Leu