Canonical Allele Identifier: CA396279089

Gene: HSD11B2

Linked Data

• MyVariant Identifiers: chr16:g.67469928G>T (hg19) ; chr16:g.67436025G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436025G>T , CM000678.2:g.67436025G>T	GRCh38
NC_000016.9:g.67469928G>T , CM000678.1:g.67469928G>T	GRCh37
NC_000016.8:g.66027429G>T	NCBI36
NG_011482.1:g.50162C>A
NG_016549.1:g.9893G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.547G>T MANE Select	ENSP00000316786.5:p.Ala183Ser
ENST00000326152.5:c.547G>T	ENSP00000316786.5:p.Ala183Ser
ENST00000566606.1:c.525G>T	ENSP00000473429.1:n.525G>T
ENST00000567684.2:n.410G>T
NM_000196.3:c.547G>T	NP_000187.3:p.Ala183Ser
NM_000196.4:c.547G>T MANE Select	NP_000187.3:p.Ala183Ser