Canonical Allele Identifier: CA396277534
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67435648A>C , CM000678.2:g.67435648A>C GRCh38
NC_000016.9:g.67469551A>C , CM000678.1:g.67469551A>C GRCh37
NC_000016.8:g.66027052A>C NCBI36
NG_016549.1:g.9516A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.286A>C MANE Select ENSP00000316786.5:p.Lys96Gln
ENST00000326152.5:c.286A>C ENSP00000316786.5:p.Lys96Gln
ENST00000566606.1:c.264A>C ENSP00000473429.1:n.264A>C
ENST00000567684.2:n.149A>C
NM_000196.3:c.286A>C NP_000187.3:p.Lys96Gln
NM_000196.4:c.286A>C MANE Select NP_000187.3:p.Lys96Gln