Canonical Allele Identifier: CA2576029239
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437067C>A , CM000678.2:g.67437067C>A GRCh38
NC_000016.9:g.67470970C>A , CM000678.1:g.67470970C>A GRCh37
NC_000016.8:g.66028471C>A NCBI36
NG_011482.1:g.49120G>T
NG_016549.1:g.10935C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*64C>A MANE Select ENSP00000316786.5:n.*64C>A
ENST00000326152.5:c.*64C>A ENSP00000316786.5:n.*64C>A
NM_000196.3:c.*64C>A NP_000187.3:n.*64C>A
NM_000196.4:c.*64C>A MANE Select NP_000187.3:n.*64C>A