Canonical Allele Identifier: CA496082443

Gene: HSD11B2

Linked Data

• MyVariant Identifiers: chr16:g.67469876C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67435973C>A , CM000678.2:g.67435973C>A	GRCh38
NC_000016.9:g.67469876C>A , CM000678.1:g.67469876C>A	GRCh37
NC_000016.8:g.66027377C>A	NCBI36
NG_016549.1:g.9841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.495C>A MANE Select	ENSP00000316786.5:p.Val165=
ENST00000326152.5:c.495C>A	ENSP00000316786.5:p.Val165=
ENST00000566606.1:c.473C>A	ENSP00000473429.1:n.473C>A
ENST00000567684.2:n.358C>A
NM_000196.3:c.495C>A	NP_000187.3:p.Val165=
NM_000196.4:c.495C>A MANE Select	NP_000187.3:p.Val165=