Canonical Allele Identifier: CA363502518

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039360-T-G
• MyVariant Identifiers: chr6:g.32007137T>G (hg19) ; chr6:g.32039360T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039360T>G , CM000668.2:g.32039360T>G	GRCh38
NC_000006.11:g.32007137T>G , CM000668.1:g.32007137T>G	GRCh37
NC_000006.10:g.32115116T>G	NCBI36
NG_007941.2:g.6053T>G
NG_008337.2:g.75015A>C
NG_007941.3:g.6056T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.452T>G MANE Select	ENSP00000496625.1:p.Met151Arg
ENST00000418967.6:c.452T>G	ENSP00000408860.2:p.Met151Arg
ENST00000435122.3:c.362T>G	ENSP00000415043.2:p.Met121Arg
ENST00000462278.1:n.40T>G
ENST00000464325.5:n.373T>G
ENST00000466779.5:c.*144T>G	ENSP00000417321.1:n.*144T>G
ENST00000466879.5:n.503T>G
ENST00000469053.5:c.*144T>G	ENSP00000418104.1:n.*144T>G
ENST00000471671.4:c.452T>G	ENSP00000418561.1:p.Met151Arg
ENST00000478281.5:c.485T>G	ENSP00000419572.1:p.Met162Arg
ENST00000479074.5:n.510T>G
ENST00000479730.5:n.607T>G
ENST00000483041.5:n.621T>G
ENST00000486063.5:n.632T>G
ENST00000488465.1:n.460T>G
NM_000500.7:c.452T>G	NP_000491.4:p.Met151Arg
NM_001128590.3:c.362T>G	NP_001122062.3:p.Met121Arg
XM_011514314.1:c.47T>G	XP_011512616.1:p.Met16Arg
NM_000500.9:c.452T>G MANE Select	NP_000491.4:p.Met151Arg
NM_001368143.1:c.47T>G	NP_001355072.1:p.Met16Arg
NM_001368144.1:c.47T>G	NP_001355073.1:p.Met16Arg
NM_001128590.4:c.362T>G	NP_001122062.3:p.Met121Arg
NM_001368143.2:c.47T>G	NP_001355072.1:p.Met16Arg
NM_001368144.2:c.47T>G	NP_001355073.1:p.Met16Arg