Canonical Allele Identifier: CA396278815
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67435974A>C , CM000678.2:g.67435974A>C GRCh38
NC_000016.9:g.67469877A>C , CM000678.1:g.67469877A>C GRCh37
NC_000016.8:g.66027378A>C NCBI36
NG_016549.1:g.9842A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.496A>C MANE Select ENSP00000316786.5:p.Asn166His
ENST00000326152.5:c.496A>C ENSP00000316786.5:p.Asn166His
ENST00000566606.1:c.474A>C ENSP00000473429.1:n.474A>C
ENST00000567684.2:n.359A>C
NM_000196.3:c.496A>C NP_000187.3:p.Asn166His
NM_000196.4:c.496A>C MANE Select NP_000187.3:p.Asn166His