Canonical Allele Identifier: CA2229311077
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs2040983326
gnomAD v4: 16-67437090-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437090C>T , CM000678.2:g.67437090C>T GRCh38
NC_000016.9:g.67470993C>T , CM000678.1:g.67470993C>T GRCh37
NC_000016.8:g.66028494C>T NCBI36
NG_011482.1:g.49097G>A
NG_016549.1:g.10958C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*87C>T MANE Select ENSP00000316786.5:n.*87C>T
ENST00000326152.5:c.*87C>T ENSP00000316786.5:n.*87C>T
NM_000196.3:c.*87C>T NP_000187.3:n.*87C>T
NM_000196.4:c.*87C>T MANE Select NP_000187.3:n.*87C>T
Search 100 bp 5'
Search 100 bp 3'