Canonical Allele Identifier: CA396279843

Gene: HSD11B2

Linked Data

• MyVariant Identifiers: chr16:g.67470040C>T (hg19) ; chr16:g.67436137C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436137C>T , CM000678.2:g.67436137C>T	GRCh38
NC_000016.9:g.67470040C>T , CM000678.1:g.67470040C>T	GRCh37
NC_000016.8:g.66027541C>T	NCBI36
NG_011482.1:g.50050G>A
NG_016549.1:g.10005C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.659C>T MANE Select	ENSP00000316786.5:p.Pro220Leu
ENST00000326152.5:c.659C>T	ENSP00000316786.5:p.Pro220Leu
ENST00000567684.2:n.522C>T
NM_000196.3:c.659C>T	NP_000187.3:p.Pro220Leu
NM_000196.4:c.659C>T MANE Select	NP_000187.3:p.Pro220Leu