Canonical Allele Identifier: CA496082987
Gene: HSD11B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67470537G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436634G>T , CM000678.2:g.67436634G>T GRCh38
NC_000016.9:g.67470537G>T , CM000678.1:g.67470537G>T GRCh37
NC_000016.8:g.66028038G>T NCBI36
NG_011482.1:g.49553C>A
NG_016549.1:g.10502G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.849G>T MANE Select ENSP00000316786.5:p.Leu283=
ENST00000326152.5:c.849G>T ENSP00000316786.5:p.Leu283=
NM_000196.3:c.849G>T NP_000187.3:p.Leu283=
NM_000196.4:c.849G>T MANE Select NP_000187.3:p.Leu283=