Canonical Allele Identifier: CA381653814
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936991A>T , CM000673.2:g.68936991A>T GRCh38
NC_000011.9:g.68704459A>T , CM000673.1:g.68704459A>T GRCh37
NC_000011.8:g.68461035A>T NCBI36
NG_007976.1:g.38141A>T , LRG_250:g.38141A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2511A>T MANE Select ENSP00000255078.4:p.Arg837Ser
ENST00000674675.1:c.656A>T
ENST00000674878.1:c.616A>T
ENST00000675118.1:c.1999A>T
ENST00000675389.1:n.786A>T
ENST00000675615.1:c.2511A>T ENSP00000502413.1:p.Arg837Ser
ENST00000675648.1:n.1886A>T
ENST00000675916.1:c.755A>T
ENST00000676173.1:n.3256A>T
ENST00000676182.1:c.942A>T
ENST00000676228.1:c.*1834A>T ENSP00000502375.1:n.*1834A>T
ENST00000255078.7:c.2511A>T ENSP00000255078.3:p.Arg837Ser
ENST00000539064.5:n.2270A>T
ENST00000543739.5:n.1504A>T
NM_002180.2:c.2511A>T , LRG_250t1:c.2511A>T NP_002171.2:p.Arg837Ser
XM_005273974.2:c.1500A>T XP_005274031.1:p.Arg500Ser
XM_005273975.2:c.1383A>T XP_005274032.1:p.Arg461Ser
XM_011544994.1:c.1278A>T XP_011543296.1:p.Arg426Ser
XR_949903.1:n.2613A>T
XM_005273975.3:c.1383A>T XP_005274032.1:p.Arg461Ser
XM_017017669.2:c.1500A>T XP_016873158.1:p.Arg500Ser
XM_017017670.2:c.1500A>T XP_016873159.1:p.Arg500Ser
XR_949903.3:n.2609A>T
NM_002180.3:c.2511A>T MANE Select NP_002171.2:p.Arg837Ser