Canonical Allele Identifier: CA381651557
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936279C>G , CM000673.2:g.68936279C>G GRCh38
NC_000011.9:g.68703747C>G , CM000673.1:g.68703747C>G GRCh37
NC_000011.8:g.68460323C>G NCBI36
NG_007976.1:g.37429C>G , LRG_250:g.37429C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1799C>G MANE Select ENSP00000255078.4:p.Ala600Gly
ENST00000674675.1:c.43C>G
ENST00000674878.1:c.43C>G
ENST00000674955.1:c.*516C>G ENSP00000502463.1:n.*516C>G
ENST00000675118.1:c.1287C>G
ENST00000675389.1:n.74C>G
ENST00000675615.1:c.1799C>G ENSP00000502413.1:p.Ala600Gly
ENST00000675648.1:n.1174C>G
ENST00000675916.1:c.43C>G
ENST00000676173.1:n.2544C>G
ENST00000676182.1:c.230C>G
ENST00000676228.1:c.*1122C>G ENSP00000502375.1:n.*1122C>G
ENST00000255078.7:c.1799C>G ENSP00000255078.3:p.Ala600Gly
ENST00000539064.5:n.1558C>G
ENST00000541229.5:n.494C>G
ENST00000543739.5:n.792C>G
ENST00000545475.1:n.395C>G
NM_002180.2:c.1799C>G , LRG_250t1:c.1799C>G NP_002171.2:p.Ala600Gly
XM_005273974.2:c.788C>G XP_005274031.1:p.Ala263Gly
XM_005273975.2:c.671C>G XP_005274032.1:p.Ala224Gly
XM_011544994.1:c.566C>G XP_011543296.1:p.Ala189Gly
XR_949903.1:n.1901C>G
XM_005273975.3:c.671C>G XP_005274032.1:p.Ala224Gly
XM_017017669.2:c.788C>G XP_016873158.1:p.Ala263Gly
XM_017017670.2:c.788C>G XP_016873159.1:p.Ala263Gly
XR_949903.3:n.1897C>G
NM_002180.3:c.1799C>G MANE Select NP_002171.2:p.Ala600Gly