Canonical Allele Identifier: CA396285514
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436975C>T , CM000678.2:g.67436975C>T GRCh38
NC_000016.9:g.67470878C>T , CM000678.1:g.67470878C>T GRCh37
NC_000016.8:g.66028379C>T NCBI36
NG_011482.1:g.49212G>A
NG_016549.1:g.10843C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1190C>T MANE Select ENSP00000316786.5:p.Pro397Leu
ENST00000326152.5:c.1190C>T ENSP00000316786.5:p.Pro397Leu
NM_000196.3:c.1190C>T NP_000187.3:p.Pro397Leu
NM_000196.4:c.1190C>T MANE Select NP_000187.3:p.Pro397Leu