Canonical Allele Identifier: CA396280226
Gene: HSD11B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67470170G>T (hg19) chr16:g.67436267G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436267G>T , CM000678.2:g.67436267G>T GRCh38
NC_000016.9:g.67470170G>T , CM000678.1:g.67470170G>T GRCh37
NC_000016.8:g.66027671G>T NCBI36
NG_011482.1:g.49920C>A
NG_016549.1:g.10135G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.683G>T MANE Select ENSP00000316786.5:p.Cys228Phe
ENST00000326152.5:c.683G>T ENSP00000316786.5:p.Cys228Phe
NM_000196.3:c.683G>T NP_000187.3:p.Cys228Phe
NM_000196.4:c.683G>T MANE Select NP_000187.3:p.Cys228Phe
Search 100 bp 5'
Search 100 bp 3'