Canonical Allele Identifier: CA8110686

Gene: HSD11B2

Linked Data

• dbSNP Id: rs376023420
• ExAC: 16:67470059 C / G
• gnomAD v2: 16-67470059-C-G
• gnomAD v3: 16-67436156-C-G
• gnomAD v4: 16-67436156-C-G
• MyVariant Identifiers: chr16:g.67470059C>G (hg19) ; chr16:g.67436156C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436156C>G , CM000678.2:g.67436156C>G	GRCh38
NC_000016.9:g.67470059C>G , CM000678.1:g.67470059C>G	GRCh37
NC_000016.8:g.66027560C>G	NCBI36
NG_011482.1:g.50031G>C
NG_016549.1:g.10024C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326152.6:c.664+14C>G MANE Select	ENSP00000316786.5:n.664+14C>G
ENST00000326152.5:c.664+14C>G	ENSP00000316786.5:n.664+14C>G
ENST00000567684.2:n.527+14C>G
NM_000196.3:c.664+14C>G	NP_000187.3:n.664+14C>G
NM_000196.4:c.664+14C>G MANE Select	NP_000187.3:n.664+14C>G