Canonical Allele Identifier: CA3732444

Gene: CYP21A2

Linked Data

• dbSNP Id: rs565063947
• ExAC: 6:32007365 G / T
• gnomAD v2: 6-32007365-G-T
• gnomAD v4: 6-32039588-G-T
• MyVariant Identifiers: chr6:g.32007365G>T (hg19) ; chr6:g.32039588G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039588G>T , CM000668.2:g.32039588G>T	GRCh38
NC_000006.11:g.32007365G>T , CM000668.1:g.32007365G>T	GRCh37
NC_000006.10:g.32115344G>T	NCBI36
NG_007941.2:g.6281G>T
NG_008337.2:g.74787C>A
NG_007941.3:g.6284G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.592G>T MANE Select	ENSP00000496625.1:p.Val198Leu
ENST00000418967.6:c.592G>T	ENSP00000408860.2:p.Val198Leu
ENST00000435122.3:c.502G>T	ENSP00000415043.2:p.Val168Leu
ENST00000462278.1:n.180G>T
ENST00000464325.5:n.513G>T
ENST00000466779.5:c.*284G>T	ENSP00000417321.1:n.*284G>T
ENST00000466879.5:n.643G>T
ENST00000469053.5:c.*284G>T	ENSP00000418104.1:n.*284G>T
ENST00000471671.4:c.553G>T	ENSP00000418561.1:p.Val185Leu
ENST00000479074.5:n.650G>T
ENST00000479730.5:n.708G>T
ENST00000483041.5:n.761G>T
ENST00000486063.5:n.772G>T
NM_000500.7:c.592G>T	NP_000491.4:p.Val198Leu
NM_001128590.3:c.502G>T	NP_001122062.3:p.Val168Leu
XM_011514314.1:c.187G>T	XP_011512616.1:p.Val63Leu
NM_000500.9:c.592G>T MANE Select	NP_000491.4:p.Val198Leu
NM_001368143.1:c.187G>T	NP_001355072.1:p.Val63Leu
NM_001368144.1:c.187G>T	NP_001355073.1:p.Val63Leu
NM_001128590.4:c.502G>T	NP_001122062.3:p.Val168Leu
NM_001368143.2:c.187G>T	NP_001355072.1:p.Val63Leu
NM_001368144.2:c.187G>T	NP_001355073.1:p.Val63Leu