Canonical Allele Identifier: CA2229310852
Gene: HSD11B2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436914C= , CM000678.2:g.67436914C= GRCh38
NC_000016.9:g.67470817C= , CM000678.1:g.67470817C= GRCh37
NC_000016.8:g.66028318C= NCBI36
NG_011482.1:g.49273G=
NG_016549.1:g.10782C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1129C= MANE Select ENSP00000316786.5:p.Gln377=
ENST00000326152.5:c.1129C= ENSP00000316786.5:p.Gln377=
NM_000196.3:c.1129C= NP_000187.3:p.Gln377=
NM_000196.4:c.1129C= MANE Select NP_000187.3:p.Gln377=
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