Canonical Allele Identifier: CA496082664

Gene: HSD11B2

Linked Data

• MyVariant Identifiers: chr16:g.67469960C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436057C>T , CM000678.2:g.67436057C>T	GRCh38
NC_000016.9:g.67469960C>T , CM000678.1:g.67469960C>T	GRCh37
NC_000016.8:g.66027461C>T	NCBI36
NG_011482.1:g.50130G>A
NG_016549.1:g.9925C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326152.6:c.579C>T MANE Select	ENSP00000316786.5:p.Phe193=
ENST00000326152.5:c.579C>T	ENSP00000316786.5:p.Phe193=
ENST00000566606.1:c.557C>T	ENSP00000473429.1:n.557C>T
ENST00000567684.2:n.442C>T
NM_000196.3:c.579C>T	NP_000187.3:p.Phe193=
NM_000196.4:c.579C>T MANE Select	NP_000187.3:p.Phe193=