Canonical Allele Identifier: CA396285408

Gene: HSD11B2

Linked Data

• MyVariant Identifiers: chr16:g.67470869A>G (hg19) ; chr16:g.67436966A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436966A>G , CM000678.2:g.67436966A>G	GRCh38
NC_000016.9:g.67470869A>G , CM000678.1:g.67470869A>G	GRCh37
NC_000016.8:g.66028370A>G	NCBI36
NG_011482.1:g.49221T>C
NG_016549.1:g.10834A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.1181A>G MANE Select	ENSP00000316786.5:p.Asn394Ser
ENST00000326152.5:c.1181A>G	ENSP00000316786.5:p.Asn394Ser
NM_000196.3:c.1181A>G	NP_000187.3:p.Asn394Ser
NM_000196.4:c.1181A>G MANE Select	NP_000187.3:p.Asn394Ser