Canonical Allele Identifier: CA396279566
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436101G>C , CM000678.2:g.67436101G>C GRCh38
NC_000016.9:g.67470004G>C , CM000678.1:g.67470004G>C GRCh37
NC_000016.8:g.66027505G>C NCBI36
NG_011482.1:g.50086C>G
NG_016549.1:g.9969G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.623G>C MANE Select ENSP00000316786.5:p.Arg208Pro
ENST00000326152.5:c.623G>C ENSP00000316786.5:p.Arg208Pro
ENST00000566606.1:c.601G>C ENSP00000473429.1:n.601G>C
ENST00000567684.2:n.486G>C
NM_000196.3:c.623G>C NP_000187.3:p.Arg208Pro
NM_000196.4:c.623G>C MANE Select NP_000187.3:p.Arg208Pro