Canonical Allele Identifier: CA496082698

Gene: HSD11B2

Linked Data

• dbSNP Id: rs2040968523
• gnomAD v4: 16-67436088-C-T
• MyVariant Identifiers: chr16:g.67469991C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436088C>T , CM000678.2:g.67436088C>T	GRCh38
NC_000016.9:g.67469991C>T , CM000678.1:g.67469991C>T	GRCh37
NC_000016.8:g.66027492C>T	NCBI36
NG_011482.1:g.50099G>A
NG_016549.1:g.9956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.610C>T MANE Select	ENSP00000316786.5:p.Leu204=
ENST00000326152.5:c.610C>T	ENSP00000316786.5:p.Leu204=
ENST00000566606.1:c.588C>T	ENSP00000473429.1:n.588C>T
ENST00000567684.2:n.473C>T
NM_000196.3:c.610C>T	NP_000187.3:p.Leu204=
NM_000196.4:c.610C>T MANE Select	NP_000187.3:p.Leu204=