Canonical Allele Identifier: CA8110778
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs775550503

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436714C>G , CM000678.2:g.67436714C>G GRCh38
NC_000016.9:g.67470617C>G , CM000678.1:g.67470617C>G GRCh37
NC_000016.8:g.66028118C>G NCBI36
NG_011482.1:g.49473G>C
NG_016549.1:g.10582C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.929C>G MANE Select ENSP00000316786.5:p.Ser310Trp
ENST00000326152.5:c.929C>G ENSP00000316786.5:p.Ser310Trp
NM_000196.3:c.929C>G NP_000187.3:p.Ser310Trp
NM_000196.4:c.929C>G MANE Select NP_000187.3:p.Ser310Trp