Canonical Allele Identifier: CA396282175
Gene: HSD11B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67470596T>A (hg19) chr16:g.67436693T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436693T>A , CM000678.2:g.67436693T>A GRCh38
NC_000016.9:g.67470596T>A , CM000678.1:g.67470596T>A GRCh37
NC_000016.8:g.66028097T>A NCBI36
NG_011482.1:g.49494A>T
NG_016549.1:g.10561T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.908T>A MANE Select ENSP00000316786.5:p.Leu303Ter
ENST00000326152.5:c.908T>A ENSP00000316786.5:p.Leu303Ter
NM_000196.3:c.908T>A NP_000187.3:p.Leu303Ter
NM_000196.4:c.908T>A MANE Select NP_000187.3:p.Leu303Ter
Search 100 bp 5'
Search 100 bp 3'