Canonical Allele Identifier: CA396278938
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs2142288985

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67435999T>C , CM000678.2:g.67435999T>C GRCh38
NC_000016.9:g.67469902T>C , CM000678.1:g.67469902T>C GRCh37
NC_000016.8:g.66027403T>C NCBI36
NG_016549.1:g.9867T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.521T>C MANE Select ENSP00000316786.5:p.Val174Ala
ENST00000326152.5:c.521T>C ENSP00000316786.5:p.Val174Ala
ENST00000566606.1:c.499T>C ENSP00000473429.1:n.499T>C
ENST00000567684.2:n.384T>C
NM_000196.3:c.521T>C NP_000187.3:p.Val174Ala
NM_000196.4:c.521T>C MANE Select NP_000187.3:p.Val174Ala