Canonical Allele Identifier: CA129702

Gene: HSD11B2

Linked Data

• ClinVar Variation Id: 31131
• ClinVar RCV Id: RCV000024127
• dbSNP Id: rs387907117
• ExAC: 16:67470700 T / C
• gnomAD v2: 16-67470700-T-C
• gnomAD v4: 16-67436797-T-C
• MyVariant Identifiers: chr16:g.67470700T>C (hg19) ; chr16:g.67436797T>C (hg38)
• PubMed: PMID:17314322

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436797T>C , CM000678.2:g.67436797T>C	GRCh38
NC_000016.9:g.67470700T>C , CM000678.1:g.67470700T>C	GRCh37
NC_000016.8:g.66028201T>C	NCBI36
NG_011482.1:g.49390A>G
NG_016549.1:g.10665T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.1012T>C MANE Select	ENSP00000316786.5:p.Tyr338His
ENST00000326152.5:c.1012T>C	ENSP00000316786.5:p.Tyr338His
NM_000196.3:c.1012T>C	NP_000187.3:p.Tyr338His
NM_000196.4:c.1012T>C MANE Select	NP_000187.3:p.Tyr338His