Canonical Allele Identifier: CA8110694

Gene: HSD11B2

Linked Data

• dbSNP Id: rs778839934
• ExAC: 16:67470063 C / G
• gnomAD v2: 16-67470063-C-G
• gnomAD v3: 16-67436160-C-G
• gnomAD v4: 16-67436160-C-G
• MyVariant Identifiers: chr16:g.67470063C>G (hg19) ; chr16:g.67436160C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436160C>G , CM000678.2:g.67436160C>G	GRCh38
NC_000016.9:g.67470063C>G , CM000678.1:g.67470063C>G	GRCh37
NC_000016.8:g.66027564C>G	NCBI36
NG_011482.1:g.50027G>C
NG_016549.1:g.10028C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326152.6:c.664+18C>G MANE Select	ENSP00000316786.5:n.664+18C>G
ENST00000326152.5:c.664+18C>G	ENSP00000316786.5:n.664+18C>G
ENST00000567684.2:n.527+18C>G
NM_000196.3:c.664+18C>G	NP_000187.3:n.664+18C>G
NM_000196.4:c.664+18C>G MANE Select	NP_000187.3:n.664+18C>G