Canonical Allele Identifier: CA381652771
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936563A>G , CM000673.2:g.68936563A>G GRCh38
NC_000011.9:g.68704031A>G , CM000673.1:g.68704031A>G GRCh37
NC_000011.8:g.68460607A>G NCBI36
NG_007976.1:g.37713A>G , LRG_250:g.37713A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2083A>G MANE Select ENSP00000255078.4:p.Lys695Glu
ENST00000674675.1:c.327A>G
ENST00000674878.1:c.327A>G
ENST00000674955.1:c.*800A>G ENSP00000502463.1:n.*800A>G
ENST00000675118.1:c.1571A>G
ENST00000675389.1:n.358A>G
ENST00000675615.1:c.2083A>G ENSP00000502413.1:p.Lys695Glu
ENST00000675648.1:n.1458A>G
ENST00000675916.1:c.327A>G
ENST00000676173.1:n.2828A>G
ENST00000676182.1:c.514A>G
ENST00000676228.1:c.*1406A>G ENSP00000502375.1:n.*1406A>G
ENST00000255078.7:c.2083A>G ENSP00000255078.3:p.Lys695Glu
ENST00000539064.5:n.1842A>G
ENST00000543739.5:n.1076A>G
NM_002180.2:c.2083A>G , LRG_250t1:c.2083A>G NP_002171.2:p.Lys695Glu
XM_005273974.2:c.1072A>G XP_005274031.1:p.Lys358Glu
XM_005273975.2:c.955A>G XP_005274032.1:p.Lys319Glu
XM_011544994.1:c.850A>G XP_011543296.1:p.Lys284Glu
XR_949903.1:n.2185A>G
XM_005273975.3:c.955A>G XP_005274032.1:p.Lys319Glu
XM_017017669.2:c.1072A>G XP_016873158.1:p.Lys358Glu
XM_017017670.2:c.1072A>G XP_016873159.1:p.Lys358Glu
XR_949903.3:n.2181A>G
NM_002180.3:c.2083A>G MANE Select NP_002171.2:p.Lys695Glu