Canonical Allele Identifier: CA2229310837
Gene: HSD11B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436909C= , CM000678.2:g.67436909C= GRCh38
NC_000016.9:g.67470812C= , CM000678.1:g.67470812C= GRCh37
NC_000016.8:g.66028313C= NCBI36
NG_011482.1:g.49278G=
NG_016549.1:g.10777C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1124C= MANE Select ENSP00000316786.5:p.Ala375=
ENST00000326152.5:c.1124C= ENSP00000316786.5:p.Ala375=
NM_000196.3:c.1124C= NP_000187.3:p.Ala375=
NM_000196.4:c.1124C= MANE Select NP_000187.3:p.Ala375=