Canonical Allele Identifier: CA381651523
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936263C>G , CM000673.2:g.68936263C>G GRCh38
NC_000011.9:g.68703731C>G , CM000673.1:g.68703731C>G GRCh37
NC_000011.8:g.68460307C>G NCBI36
NG_007976.1:g.37413C>G , LRG_250:g.37413C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1783C>G MANE Select ENSP00000255078.4:p.Arg595Gly
ENST00000674675.1:c.27C>G
ENST00000674878.1:c.27C>G
ENST00000674955.1:c.*500C>G ENSP00000502463.1:n.*500C>G
ENST00000675118.1:c.1271C>G
ENST00000675389.1:n.58C>G
ENST00000675615.1:c.1783C>G ENSP00000502413.1:p.Arg595Gly
ENST00000675648.1:n.1158C>G
ENST00000675916.1:c.27C>G
ENST00000676173.1:n.2528C>G
ENST00000676182.1:c.214C>G
ENST00000676228.1:c.*1106C>G ENSP00000502375.1:n.*1106C>G
ENST00000255078.7:c.1783C>G ENSP00000255078.3:p.Arg595Gly
ENST00000539064.5:n.1542C>G
ENST00000541229.5:n.478C>G
ENST00000543739.5:n.776C>G
ENST00000545475.1:n.379C>G
NM_002180.2:c.1783C>G , LRG_250t1:c.1783C>G NP_002171.2:p.Arg595Gly
XM_005273974.2:c.772C>G XP_005274031.1:p.Arg258Gly
XM_005273975.2:c.655C>G XP_005274032.1:p.Arg219Gly
XM_011544994.1:c.550C>G XP_011543296.1:p.Arg184Gly
XR_949903.1:n.1885C>G
XM_005273975.3:c.655C>G XP_005274032.1:p.Arg219Gly
XM_017017669.2:c.772C>G XP_016873158.1:p.Arg258Gly
XM_017017670.2:c.772C>G XP_016873159.1:p.Arg258Gly
XR_949903.3:n.1881C>G
NM_002180.3:c.1783C>G MANE Select NP_002171.2:p.Arg595Gly