Canonical Allele Identifier: CA396280199
Community Standard Title: NM_000196.4(HSD11B2):c.680C>A (p.Pro227Gln)
Gene: HSD11B2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436264C>A , CM000678.2:g.67436264C>A GRCh38
NC_000016.9:g.67470167C>A , CM000678.1:g.67470167C>A GRCh37
NC_000016.8:g.66027668C>A NCBI36
NG_011482.1:g.49923G>T
NG_016549.1:g.10132C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000196.4:c.680C>A MANE Select NP_000187.3:p.Pro227Gln
ENST00000326152.6:c.680C>A MANE Select ENSP00000316786.5:p.Pro227Gln
NM_000196.3:c.680C>A NP_000187.3:p.Pro227Gln
ENST00000326152.5:c.680C>A ENSP00000316786.5:p.Pro227Gln
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