Canonical Allele Identifier: CA4187639
Community Standard Title: NM_002510.3(GPNMB):c.1118-2A>G
Gene: GPNMB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23267884A>G , CM000669.2:g.23267884A>G GRCh38
NC_000007.13:g.23307503A>G , CM000669.1:g.23307503A>G GRCh37
NC_000007.12:g.23274028A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002510.3:c.1118-2A>G MANE Select NP_002501.1:n.1118-2A>G
ENST00000258733.9:c.1118-2A>G MANE Select ENSP00000258733.5:n.1118-2A>G
NM_001005340.1:c.1154-2A>G NP_001005340.1:n.1154-2A>G
NM_001005340.2:c.1154-2A>G NP_001005340.1:n.1154-2A>G
NM_002510.2:c.1118-2A>G NP_002501.1:n.1118-2A>G
ENST00000258733.8:c.1118-2A>G ENSP00000258733.4:n.1118-2A>G
ENST00000381990.6:c.1154-2A>G ENSP00000371420.2:n.1154-2A>G
ENST00000479625.1:n.477-2A>G
ENST00000647578.1:c.1202-2A>G ENSP00000497362.1:n.1202-2A>G
XM_005249578.1:c.1154-2A>G XP_005249635.1:n.1154-2A>G
XM_005249578.3:c.1154-2A>G XP_005249635.1:n.1154-2A>G
XM_017011676.2:c.1238-2A>G XP_016867165.1:n.1238-2A>G
XM_017011677.2:c.1238-2A>G XP_016867166.1:n.1238-2A>G
XM_017011678.2:c.1118-2A>G XP_016867167.1:n.1118-2A>G