Canonical Allele Identifier: CA381653230
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936773C>G , CM000673.2:g.68936773C>G GRCh38
NC_000011.9:g.68704241C>G , CM000673.1:g.68704241C>G GRCh37
NC_000011.8:g.68460817C>G NCBI36
NG_007976.1:g.37923C>G , LRG_250:g.37923C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2293C>G MANE Select ENSP00000255078.4:p.His765Asp
ENST00000674675.1:c.537C>G
ENST00000674878.1:c.537C>G
ENST00000674955.1:c.*1010C>G ENSP00000502463.1:n.*1010C>G
ENST00000675118.1:c.1781C>G
ENST00000675389.1:n.568C>G
ENST00000675615.1:c.2293C>G ENSP00000502413.1:p.His765Asp
ENST00000675648.1:n.1668C>G
ENST00000675916.1:c.537C>G
ENST00000676173.1:n.3038C>G
ENST00000676182.1:c.724C>G
ENST00000676228.1:c.*1616C>G ENSP00000502375.1:n.*1616C>G
ENST00000255078.7:c.2293C>G ENSP00000255078.3:p.His765Asp
ENST00000539064.5:n.2052C>G
ENST00000543739.5:n.1286C>G
NM_002180.2:c.2293C>G , LRG_250t1:c.2293C>G NP_002171.2:p.His765Asp
XM_005273974.2:c.1282C>G XP_005274031.1:p.His428Asp
XM_005273975.2:c.1165C>G XP_005274032.1:p.His389Asp
XM_011544994.1:c.1060C>G XP_011543296.1:p.His354Asp
XR_949903.1:n.2395C>G
XM_005273975.3:c.1165C>G XP_005274032.1:p.His389Asp
XM_017017669.2:c.1282C>G XP_016873158.1:p.His428Asp
XM_017017670.2:c.1282C>G XP_016873159.1:p.His428Asp
XR_949903.3:n.2391C>G
NM_002180.3:c.2293C>G MANE Select NP_002171.2:p.His765Asp