Canonical Allele Identifier: CA396277483

Gene: HSD11B2

Linked Data

• MyVariant Identifiers: chr16:g.67469545T>G (hg19) ; chr16:g.67435642T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67435642T>G , CM000678.2:g.67435642T>G	GRCh38
NC_000016.9:g.67469545T>G , CM000678.1:g.67469545T>G	GRCh37
NC_000016.8:g.66027046T>G	NCBI36
NG_016549.1:g.9510T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.280T>G MANE Select	ENSP00000316786.5:p.Phe94Val
ENST00000326152.5:c.280T>G	ENSP00000316786.5:p.Phe94Val
ENST00000566606.1:c.258T>G	ENSP00000473429.1:n.258T>G
ENST00000567684.2:n.143T>G
NM_000196.3:c.280T>G	NP_000187.3:p.Phe94Val
NM_000196.4:c.280T>G MANE Select	NP_000187.3:p.Phe94Val