Canonical Allele Identifier: CA623119561
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs1420634382
gnomAD v2: 16-67470012-AG-A
gnomAD v4: 16-67436109-AG-A
MyVariant Identifiers: chr16:g.67470013del (hg19) chr16:g.67436110del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436113del , CM000678.2:g.67436113del GRCh38
NC_000016.9:g.67470016del , CM000678.1:g.67470016del GRCh37
NC_000016.8:g.66027517del NCBI36
NG_011482.1:g.50077del
NG_016549.1:g.9981del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.635del MANE Select ENSP00000316786.5:p.Gly212AlafsTer4
ENST00000326152.5:c.635del ENSP00000316786.5:p.Gly212AlafsTer4
ENST00000566606.1:c.613del ENSP00000473429.1:n.613del
ENST00000567684.2:n.498del
NM_000196.3:c.635del NP_000187.3:p.Gly212AlafsTer4
NM_000196.4:c.635del MANE Select NP_000187.3:p.Gly212AlafsTer4
Search 100 bp 5'
Search 100 bp 3'