Canonical Allele Identifier: CA449818701

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007367G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039590G>C , CM000668.2:g.32039590G>C	GRCh38
NC_000006.11:g.32007367G>C , CM000668.1:g.32007367G>C	GRCh37
NC_000006.10:g.32115346G>C	NCBI36
NG_007941.2:g.6283G>C
NG_008337.2:g.74785C>G
NG_007941.3:g.6286G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.594G>C MANE Select	ENSP00000496625.1:p.Val198=
ENST00000418967.6:c.594G>C	ENSP00000408860.2:p.Val198=
ENST00000435122.3:c.504G>C	ENSP00000415043.2:p.Val168=
ENST00000462278.1:n.182G>C
ENST00000464325.5:n.515G>C
ENST00000466779.5:c.*286G>C	ENSP00000417321.1:n.*286G>C
ENST00000466879.5:n.645G>C
ENST00000469053.5:c.*286G>C	ENSP00000418104.1:n.*286G>C
ENST00000471671.4:c.555G>C	ENSP00000418561.1:p.Val185=
ENST00000479074.5:n.652G>C
ENST00000479730.5:n.710G>C
ENST00000483041.5:n.763G>C
ENST00000486063.5:n.774G>C
NM_000500.7:c.594G>C	NP_000491.4:p.Val198=
NM_001128590.3:c.504G>C	NP_001122062.3:p.Val168=
XM_011514314.1:c.189G>C	XP_011512616.1:p.Val63=
NM_000500.9:c.594G>C MANE Select	NP_000491.4:p.Val198=
NM_001368143.1:c.189G>C	NP_001355072.1:p.Val63=
NM_001368144.1:c.189G>C	NP_001355073.1:p.Val63=
NM_001128590.4:c.504G>C	NP_001122062.3:p.Val168=
NM_001368143.2:c.189G>C	NP_001355072.1:p.Val63=
NM_001368144.2:c.189G>C	NP_001355073.1:p.Val63=