Canonical Allele Identifier: CA396285766

Gene: HSD11B2

Linked Data

• MyVariant Identifiers: chr16:g.67470906A>T (hg19) ; chr16:g.67437003A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67437003A>T , CM000678.2:g.67437003A>T	GRCh38
NC_000016.9:g.67470906A>T , CM000678.1:g.67470906A>T	GRCh37
NC_000016.8:g.66028407A>T	NCBI36
NG_011482.1:g.49184T>A
NG_016549.1:g.10871A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.1218A>T MANE Select	ENSP00000316786.5:p.Ter406Cys
ENST00000326152.5:c.1218A>T	ENSP00000316786.5:p.Ter406Cys
NM_000196.3:c.1218A>T	NP_000187.3:p.Ter406Cys
NM_000196.4:c.1218A>T MANE Select	NP_000187.3:p.Ter406Cys