Canonical Allele Identifier: CA396282369
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436720G>C , CM000678.2:g.67436720G>C GRCh38
NC_000016.9:g.67470623G>C , CM000678.1:g.67470623G>C GRCh37
NC_000016.8:g.66028124G>C NCBI36
NG_011482.1:g.49467C>G
NG_016549.1:g.10588G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.935G>C MANE Select ENSP00000316786.5:p.Arg312Pro
ENST00000326152.5:c.935G>C ENSP00000316786.5:p.Arg312Pro
NM_000196.3:c.935G>C NP_000187.3:p.Arg312Pro
NM_000196.4:c.935G>C MANE Select NP_000187.3:p.Arg312Pro