Canonical Allele Identifier: CA396279757
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436127G>T , CM000678.2:g.67436127G>T GRCh38
NC_000016.9:g.67470030G>T , CM000678.1:g.67470030G>T GRCh37
NC_000016.8:g.66027531G>T NCBI36
NG_011482.1:g.50060C>A
NG_016549.1:g.9995G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.649G>T MANE Select ENSP00000316786.5:p.Val217Leu
ENST00000326152.5:c.649G>T ENSP00000316786.5:p.Val217Leu
ENST00000566606.1:c.627G>T ENSP00000473429.1:n.627G>T
ENST00000567684.2:n.512G>T
NM_000196.3:c.649G>T NP_000187.3:p.Val217Leu
NM_000196.4:c.649G>T MANE Select NP_000187.3:p.Val217Leu