Canonical Allele Identifier: CA363504882

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039781-G-T
• MyVariant Identifiers: chr6:g.32007558G>T (hg19) ; chr6:g.32039781G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039781G>T , CM000668.2:g.32039781G>T	GRCh38
NC_000006.11:g.32007558G>T , CM000668.1:g.32007558G>T	GRCh37
NC_000006.10:g.32115537G>T	NCBI36
NG_007941.2:g.6474G>T
NG_008337.2:g.74594C>A
NG_007941.3:g.6477G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.684G>T MANE Select	ENSP00000496625.1:p.Lys228Asn
ENST00000418967.6:c.684G>T	ENSP00000408860.2:p.Lys228Asn
ENST00000435122.3:c.594G>T	ENSP00000415043.2:p.Lys198Asn
ENST00000462278.1:n.373G>T
ENST00000466779.5:c.*376G>T	ENSP00000417321.1:n.*376G>T
ENST00000466879.5:n.735G>T
ENST00000479074.5:n.742G>T
ENST00000479730.5:n.800G>T
ENST00000483041.5:n.853G>T
ENST00000486063.5:n.864G>T
NM_000500.7:c.684G>T	NP_000491.4:p.Lys228Asn
NM_001128590.3:c.594G>T	NP_001122062.3:p.Lys198Asn
XM_011514314.1:c.279G>T	XP_011512616.1:p.Lys93Asn
NM_000500.9:c.684G>T MANE Select	NP_000491.4:p.Lys228Asn
NM_001368143.1:c.279G>T	NP_001355072.1:p.Lys93Asn
NM_001368144.1:c.279G>T	NP_001355073.1:p.Lys93Asn
NM_001128590.4:c.594G>T	NP_001122062.3:p.Lys198Asn
NM_001368143.2:c.279G>T	NP_001355072.1:p.Lys93Asn
NM_001368144.2:c.279G>T	NP_001355073.1:p.Lys93Asn