Canonical Allele Identifier: CA396279230

Gene: HSD11B2

Linked Data

• MyVariant Identifiers: chr16:g.67469950A>T (hg19) ; chr16:g.67436047A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436047A>T , CM000678.2:g.67436047A>T	GRCh38
NC_000016.9:g.67469950A>T , CM000678.1:g.67469950A>T	GRCh37
NC_000016.8:g.66027451A>T	NCBI36
NG_011482.1:g.50140T>A
NG_016549.1:g.9915A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.569A>T MANE Select	ENSP00000316786.5:p.Glu190Val
ENST00000326152.5:c.569A>T	ENSP00000316786.5:p.Glu190Val
ENST00000566606.1:c.547A>T	ENSP00000473429.1:n.547A>T
ENST00000567684.2:n.432A>T
NM_000196.3:c.569A>T	NP_000187.3:p.Glu190Val
NM_000196.4:c.569A>T MANE Select	NP_000187.3:p.Glu190Val