Canonical Allele Identifier: CA381653033
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936687T>G , CM000673.2:g.68936687T>G GRCh38
NC_000011.9:g.68704155T>G , CM000673.1:g.68704155T>G GRCh37
NC_000011.8:g.68460731T>G NCBI36
NG_007976.1:g.37837T>G , LRG_250:g.37837T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2207T>G MANE Select ENSP00000255078.4:p.Phe736Cys
ENST00000674675.1:c.451T>G
ENST00000674878.1:c.451T>G
ENST00000674955.1:c.*924T>G ENSP00000502463.1:n.*924T>G
ENST00000675118.1:c.1695T>G
ENST00000675389.1:n.482T>G
ENST00000675615.1:c.2207T>G ENSP00000502413.1:p.Phe736Cys
ENST00000675648.1:n.1582T>G
ENST00000675916.1:c.451T>G
ENST00000676173.1:n.2952T>G
ENST00000676182.1:c.638T>G
ENST00000676228.1:c.*1530T>G ENSP00000502375.1:n.*1530T>G
ENST00000255078.7:c.2207T>G ENSP00000255078.3:p.Phe736Cys
ENST00000539064.5:n.1966T>G
ENST00000543739.5:n.1200T>G
NM_002180.2:c.2207T>G , LRG_250t1:c.2207T>G NP_002171.2:p.Phe736Cys
XM_005273974.2:c.1196T>G XP_005274031.1:p.Phe399Cys
XM_005273975.2:c.1079T>G XP_005274032.1:p.Phe360Cys
XM_011544994.1:c.974T>G XP_011543296.1:p.Phe325Cys
XR_949903.1:n.2309T>G
XM_005273975.3:c.1079T>G XP_005274032.1:p.Phe360Cys
XM_017017669.2:c.1196T>G XP_016873158.1:p.Phe399Cys
XM_017017670.2:c.1196T>G XP_016873159.1:p.Phe399Cys
XR_949903.3:n.2305T>G
NM_002180.3:c.2207T>G MANE Select NP_002171.2:p.Phe736Cys