Canonical Allele Identifier: CA2678089719
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32040592-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040592C>T , CM000668.2:g.32040592C>T GRCh38
NC_000006.11:g.32008369C>T , CM000668.1:g.32008369C>T GRCh37
NC_000006.10:g.32116348C>T NCBI36
NG_007941.2:g.7285C>T
NG_008337.2:g.73783G>A
NG_007941.3:g.7288C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1118+8C>T MANE Select ENSP00000496625.1:n.1118+8C>T
ENST00000418967.6:c.1118+8C>T ENSP00000408860.2:n.1118+8C>T
ENST00000435122.3:c.1028+8C>T ENSP00000415043.2:n.1028+8C>T
ENST00000479074.5:n.1184C>T
ENST00000479730.5:n.1234+8C>T
ENST00000483041.5:n.1287+8C>T
ENST00000486063.5:n.1097+8C>T
NM_000500.7:c.1118+8C>T NP_000491.4:n.1118+8C>T
NM_001128590.3:c.1028+8C>T NP_001122062.3:n.1028+8C>T
XM_011514314.1:c.713+8C>T XP_011512616.1:n.713+8C>T
NM_000500.9:c.1118+8C>T MANE Select NP_000491.4:n.1118+8C>T
NM_001368143.1:c.713+8C>T NP_001355072.1:n.713+8C>T
NM_001368144.1:c.713+8C>T NP_001355073.1:n.713+8C>T
NM_001128590.4:c.1028+8C>T NP_001122062.3:n.1028+8C>T
NM_001368143.2:c.713+8C>T NP_001355072.1:n.713+8C>T
NM_001368144.2:c.713+8C>T NP_001355073.1:n.713+8C>T