Canonical Allele Identifier: CA282328209
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs1041952668
gnomAD v2: 16-67470802-C-G
gnomAD v3: 16-67436899-C-G
gnomAD v4: 16-67436899-C-G
MyVariant Identifiers: chr16:g.67470802C>G (hg19) chr16:g.67436899C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436899C>G , CM000678.2:g.67436899C>G GRCh38
NC_000016.9:g.67470802C>G , CM000678.1:g.67470802C>G GRCh37
NC_000016.8:g.66028303C>G NCBI36
NG_011482.1:g.49288G>C
NG_016549.1:g.10767C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1114C>G MANE Select ENSP00000316786.5:p.Leu372Val
ENST00000326152.5:c.1114C>G ENSP00000316786.5:p.Leu372Val
NM_000196.3:c.1114C>G NP_000187.3:p.Leu372Val
NM_000196.4:c.1114C>G MANE Select NP_000187.3:p.Leu372Val
Search 100 bp 5'
Search 100 bp 3'