Canonical Allele Identifier: CA381651494
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936249T>G , CM000673.2:g.68936249T>G GRCh38
NC_000011.9:g.68703717T>G , CM000673.1:g.68703717T>G GRCh37
NC_000011.8:g.68460293T>G NCBI36
NG_007976.1:g.37399T>G , LRG_250:g.37399T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1769T>G MANE Select ENSP00000255078.4:p.Phe590Cys
ENST00000674675.1:c.13T>G
ENST00000674878.1:c.13T>G
ENST00000674955.1:c.*486T>G ENSP00000502463.1:n.*486T>G
ENST00000675118.1:c.1257T>G
ENST00000675389.1:n.44T>G
ENST00000675615.1:c.1769T>G ENSP00000502413.1:p.Phe590Cys
ENST00000675648.1:n.1144T>G
ENST00000675916.1:c.13T>G
ENST00000676173.1:n.2514T>G
ENST00000676182.1:c.200T>G
ENST00000676228.1:c.*1092T>G ENSP00000502375.1:n.*1092T>G
ENST00000255078.7:c.1769T>G ENSP00000255078.3:p.Phe590Cys
ENST00000539064.5:n.1528T>G
ENST00000541229.5:n.464T>G
ENST00000543739.5:n.762T>G
ENST00000545475.1:n.365T>G
NM_002180.2:c.1769T>G , LRG_250t1:c.1769T>G NP_002171.2:p.Phe590Cys
XM_005273974.2:c.758T>G XP_005274031.1:p.Phe253Cys
XM_005273975.2:c.641T>G XP_005274032.1:p.Phe214Cys
XM_011544994.1:c.536T>G XP_011543296.1:p.Phe179Cys
XR_949903.1:n.1871T>G
XM_005273975.3:c.641T>G XP_005274032.1:p.Phe214Cys
XM_017017669.2:c.758T>G XP_016873158.1:p.Phe253Cys
XM_017017670.2:c.758T>G XP_016873159.1:p.Phe253Cys
XR_949903.3:n.1867T>G
NM_002180.3:c.1769T>G MANE Select NP_002171.2:p.Phe590Cys