Canonical Allele Identifier: CA623119598
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs1490123376
gnomAD v2: 16-67469891-CA-C
gnomAD v3: 16-67435988-CA-C
gnomAD v4: 16-67435988-CA-C
MyVariant Identifiers: chr16:g.67469892del (hg19) chr16:g.67435989del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67435990del , CM000678.2:g.67435990del GRCh38
NC_000016.9:g.67469893del , CM000678.1:g.67469893del GRCh37
NC_000016.8:g.66027394del NCBI36
NG_016549.1:g.9858del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.512del MANE Select ENSP00000316786.5:p.Asn171MetfsTer3
ENST00000326152.5:c.512del ENSP00000316786.5:p.Asn171MetfsTer3
ENST00000566606.1:c.490del ENSP00000473429.1:n.490del
ENST00000567684.2:n.375del
NM_000196.3:c.512del NP_000187.3:p.Asn171MetfsTer3
NM_000196.4:c.512del MANE Select NP_000187.3:p.Asn171MetfsTer3
Search 100 bp 5'
Search 100 bp 3'