Canonical Allele Identifier: CA363510446

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1483261015
• gnomAD v2: 6-32008188-G-T
• gnomAD v4: 6-32040411-G-T
• MyVariant Identifiers: chr6:g.32008188G>T (hg19) ; chr6:g.32040411G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040411G>T , CM000668.2:g.32040411G>T	GRCh38
NC_000006.11:g.32008188G>T , CM000668.1:g.32008188G>T	GRCh37
NC_000006.10:g.32116167G>T	NCBI36
NG_007941.2:g.7104G>T
NG_008337.2:g.73964C>A
NG_007941.3:g.7107G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.945G>T MANE Select	ENSP00000496625.1:p.Gln315His
ENST00000418967.6:c.945G>T	ENSP00000408860.2:p.Gln315His
ENST00000435122.3:c.855G>T	ENSP00000415043.2:p.Gln285His
ENST00000479074.5:n.1003G>T
ENST00000479730.5:n.1061G>T
ENST00000483041.5:n.1114G>T
ENST00000486063.5:n.924G>T
NM_000500.7:c.945G>T	NP_000491.4:p.Gln315His
NM_001128590.3:c.855G>T	NP_001122062.3:p.Gln285His
XM_011514314.1:c.540G>T	XP_011512616.1:p.Gln180His
NM_000500.9:c.945G>T MANE Select	NP_000491.4:p.Gln315His
NM_001368143.1:c.540G>T	NP_001355072.1:p.Gln180His
NM_001368144.1:c.540G>T	NP_001355073.1:p.Gln180His
NM_001128590.4:c.855G>T	NP_001122062.3:p.Gln285His
NM_001368143.2:c.540G>T	NP_001355072.1:p.Gln180His
NM_001368144.2:c.540G>T	NP_001355073.1:p.Gln180His