Canonical Allele Identifier: CA396280253
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436273G>C , CM000678.2:g.67436273G>C GRCh38
NC_000016.9:g.67470176G>C , CM000678.1:g.67470176G>C GRCh37
NC_000016.8:g.66027677G>C NCBI36
NG_011482.1:g.49914C>G
NG_016549.1:g.10141G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.689G>C MANE Select ENSP00000316786.5:p.Gly230Ala
ENST00000326152.5:c.689G>C ENSP00000316786.5:p.Gly230Ala
NM_000196.3:c.689G>C NP_000187.3:p.Gly230Ala
NM_000196.4:c.689G>C MANE Select NP_000187.3:p.Gly230Ala