Canonical Allele Identifier: CA396279825

Gene: HSD11B2

Linked Data

• MyVariant Identifiers: chr16:g.67470039C>G (hg19) ; chr16:g.67436136C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436136C>G , CM000678.2:g.67436136C>G	GRCh38
NC_000016.9:g.67470039C>G , CM000678.1:g.67470039C>G	GRCh37
NC_000016.8:g.66027540C>G	NCBI36
NG_011482.1:g.50051G>C
NG_016549.1:g.10004C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.658C>G MANE Select	ENSP00000316786.5:p.Pro220Ala
ENST00000326152.5:c.658C>G	ENSP00000316786.5:p.Pro220Ala
ENST00000567684.2:n.521C>G
NM_000196.3:c.658C>G	NP_000187.3:p.Pro220Ala
NM_000196.4:c.658C>G MANE Select	NP_000187.3:p.Pro220Ala