Canonical Allele Identifier: CA381653002
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936675T>A , CM000673.2:g.68936675T>A GRCh38
NC_000011.9:g.68704143T>A , CM000673.1:g.68704143T>A GRCh37
NC_000011.8:g.68460719T>A NCBI36
NG_007976.1:g.37825T>A , LRG_250:g.37825T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2195T>A MANE Select ENSP00000255078.4:p.Met732Lys
ENST00000674675.1:c.439T>A
ENST00000674878.1:c.439T>A
ENST00000674955.1:c.*912T>A ENSP00000502463.1:n.*912T>A
ENST00000675118.1:c.1683T>A
ENST00000675389.1:n.470T>A
ENST00000675615.1:c.2195T>A ENSP00000502413.1:p.Met732Lys
ENST00000675648.1:n.1570T>A
ENST00000675916.1:c.439T>A
ENST00000676173.1:n.2940T>A
ENST00000676182.1:c.626T>A
ENST00000676228.1:c.*1518T>A ENSP00000502375.1:n.*1518T>A
ENST00000255078.7:c.2195T>A ENSP00000255078.3:p.Met732Lys
ENST00000539064.5:n.1954T>A
ENST00000543739.5:n.1188T>A
NM_002180.2:c.2195T>A , LRG_250t1:c.2195T>A NP_002171.2:p.Met732Lys
XM_005273974.2:c.1184T>A XP_005274031.1:p.Met395Lys
XM_005273975.2:c.1067T>A XP_005274032.1:p.Met356Lys
XM_011544994.1:c.962T>A XP_011543296.1:p.Met321Lys
XR_949903.1:n.2297T>A
XM_005273975.3:c.1067T>A XP_005274032.1:p.Met356Lys
XM_017017669.2:c.1184T>A XP_016873158.1:p.Met395Lys
XM_017017670.2:c.1184T>A XP_016873159.1:p.Met395Lys
XR_949903.3:n.2293T>A
NM_002180.3:c.2195T>A MANE Select NP_002171.2:p.Met732Lys