Canonical Allele Identifier: CA396279035
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436016T>G , CM000678.2:g.67436016T>G GRCh38
NC_000016.9:g.67469919T>G , CM000678.1:g.67469919T>G GRCh37
NC_000016.8:g.66027420T>G NCBI36
NG_011482.1:g.50171A>C
NG_016549.1:g.9884T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.538T>G MANE Select ENSP00000316786.5:p.Ser180Ala
ENST00000326152.5:c.538T>G ENSP00000316786.5:p.Ser180Ala
ENST00000566606.1:c.516T>G ENSP00000473429.1:n.516T>G
ENST00000567684.2:n.401T>G
NM_000196.3:c.538T>G NP_000187.3:p.Ser180Ala
NM_000196.4:c.538T>G MANE Select NP_000187.3:p.Ser180Ala