Canonical Allele Identifier: CA396285623

Gene: HSD11B2

Linked Data

• MyVariant Identifiers: chr16:g.67470890C>G (hg19) ; chr16:g.67436987C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436987C>G , CM000678.2:g.67436987C>G	GRCh38
NC_000016.9:g.67470890C>G , CM000678.1:g.67470890C>G	GRCh37
NC_000016.8:g.66028391C>G	NCBI36
NG_011482.1:g.49200G>C
NG_016549.1:g.10855C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.1202C>G MANE Select	ENSP00000316786.5:p.Pro401Arg
ENST00000326152.5:c.1202C>G	ENSP00000316786.5:p.Pro401Arg
NM_000196.3:c.1202C>G	NP_000187.3:p.Pro401Arg
NM_000196.4:c.1202C>G MANE Select	NP_000187.3:p.Pro401Arg