Canonical Allele Identifier: CA381653781
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936975C>G , CM000673.2:g.68936975C>G GRCh38
NC_000011.9:g.68704443C>G , CM000673.1:g.68704443C>G GRCh37
NC_000011.8:g.68461019C>G NCBI36
NG_007976.1:g.38125C>G , LRG_250:g.38125C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2495C>G MANE Select ENSP00000255078.4:p.Thr832Arg
ENST00000674675.1:c.640C>G
ENST00000674878.1:c.600C>G
ENST00000675118.1:c.1983C>G
ENST00000675389.1:n.770C>G
ENST00000675615.1:c.2495C>G ENSP00000502413.1:p.Thr832Arg
ENST00000675648.1:n.1870C>G
ENST00000675916.1:c.739C>G
ENST00000676173.1:n.3240C>G
ENST00000676182.1:c.926C>G
ENST00000676228.1:c.*1818C>G ENSP00000502375.1:n.*1818C>G
ENST00000255078.7:c.2495C>G ENSP00000255078.3:p.Thr832Arg
ENST00000539064.5:n.2254C>G
ENST00000543739.5:n.1488C>G
NM_002180.2:c.2495C>G , LRG_250t1:c.2495C>G NP_002171.2:p.Thr832Arg
XM_005273974.2:c.1484C>G XP_005274031.1:p.Thr495Arg
XM_005273975.2:c.1367C>G XP_005274032.1:p.Thr456Arg
XM_011544994.1:c.1262C>G XP_011543296.1:p.Thr421Arg
XR_949903.1:n.2597C>G
XM_005273975.3:c.1367C>G XP_005274032.1:p.Thr456Arg
XM_017017669.2:c.1484C>G XP_016873158.1:p.Thr495Arg
XM_017017670.2:c.1484C>G XP_016873159.1:p.Thr495Arg
XR_949903.3:n.2593C>G
NM_002180.3:c.2495C>G MANE Select NP_002171.2:p.Thr832Arg