Canonical Allele Identifier: CA381653745
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936958C>G , CM000673.2:g.68936958C>G GRCh38
NC_000011.9:g.68704426C>G , CM000673.1:g.68704426C>G GRCh37
NC_000011.8:g.68461002C>G NCBI36
NG_007976.1:g.38108C>G , LRG_250:g.38108C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2478C>G MANE Select ENSP00000255078.4:p.Asp826Glu
ENST00000674675.1:c.623C>G
ENST00000674878.1:c.583C>G
ENST00000675118.1:c.1966C>G
ENST00000675389.1:n.753C>G
ENST00000675615.1:c.2478C>G ENSP00000502413.1:p.Asp826Glu
ENST00000675648.1:n.1853C>G
ENST00000675916.1:c.722C>G
ENST00000676173.1:n.3223C>G
ENST00000676182.1:c.909C>G
ENST00000676228.1:c.*1801C>G ENSP00000502375.1:n.*1801C>G
ENST00000255078.7:c.2478C>G ENSP00000255078.3:p.Asp826Glu
ENST00000539064.5:n.2237C>G
ENST00000543739.5:n.1471C>G
NM_002180.2:c.2478C>G , LRG_250t1:c.2478C>G NP_002171.2:p.Asp826Glu
XM_005273974.2:c.1467C>G XP_005274031.1:p.Asp489Glu
XM_005273975.2:c.1350C>G XP_005274032.1:p.Asp450Glu
XM_011544994.1:c.1245C>G XP_011543296.1:p.Asp415Glu
XR_949903.1:n.2580C>G
XM_005273975.3:c.1350C>G XP_005274032.1:p.Asp450Glu
XM_017017669.2:c.1467C>G XP_016873158.1:p.Asp489Glu
XM_017017670.2:c.1467C>G XP_016873159.1:p.Asp489Glu
XR_949903.3:n.2576C>G
NM_002180.3:c.2478C>G MANE Select NP_002171.2:p.Asp826Glu