Canonical Allele Identifier: CA396279740
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs2040968958

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436124A>G , CM000678.2:g.67436124A>G GRCh38
NC_000016.9:g.67470027A>G , CM000678.1:g.67470027A>G GRCh37
NC_000016.8:g.66027528A>G NCBI36
NG_011482.1:g.50063T>C
NG_016549.1:g.9992A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.646A>G MANE Select ENSP00000316786.5:p.Thr216Ala
ENST00000326152.5:c.646A>G ENSP00000316786.5:p.Thr216Ala
ENST00000566606.1:c.624A>G ENSP00000473429.1:n.624A>G
ENST00000567684.2:n.509A>G
NM_000196.3:c.646A>G NP_000187.3:p.Thr216Ala
NM_000196.4:c.646A>G MANE Select NP_000187.3:p.Thr216Ala