Canonical Allele Identifier: CA381653228
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2293C>T MANE Select ENSP00000255078.4:p.His765Tyr
ENST00000674675.1:c.537C>T
ENST00000674878.1:c.537C>T
ENST00000674955.1:c.*1010C>T ENSP00000502463.1:n.*1010C>T
ENST00000675118.1:c.1781C>T
ENST00000675389.1:n.568C>T
ENST00000675615.1:c.2293C>T ENSP00000502413.1:p.His765Tyr
ENST00000675648.1:n.1668C>T
ENST00000675916.1:c.537C>T
ENST00000676173.1:n.3038C>T
ENST00000676182.1:c.724C>T
ENST00000676228.1:c.*1616C>T ENSP00000502375.1:n.*1616C>T
ENST00000255078.7:c.2293C>T ENSP00000255078.3:p.His765Tyr
ENST00000539064.5:n.2052C>T
ENST00000543739.5:n.1286C>T
NM_002180.2:c.2293C>T , LRG_250t1:c.2293C>T NP_002171.2:p.His765Tyr
XM_005273974.2:c.1282C>T XP_005274031.1:p.His428Tyr
XM_005273975.2:c.1165C>T XP_005274032.1:p.His389Tyr
XM_011544994.1:c.1060C>T XP_011543296.1:p.His354Tyr
XR_949903.1:n.2395C>T
XM_005273975.3:c.1165C>T XP_005274032.1:p.His389Tyr
XM_017017669.2:c.1282C>T XP_016873158.1:p.His428Tyr
XM_017017670.2:c.1282C>T XP_016873159.1:p.His428Tyr
XR_949903.3:n.2391C>T
NM_002180.3:c.2293C>T MANE Select NP_002171.2:p.His765Tyr