Canonical Allele Identifier: CA381652608
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936482G>C , CM000673.2:g.68936482G>C GRCh38
NC_000011.9:g.68703950G>C , CM000673.1:g.68703950G>C GRCh37
NC_000011.8:g.68460526G>C NCBI36
NG_007976.1:g.37632G>C , LRG_250:g.37632G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2002G>C MANE Select ENSP00000255078.4:p.Gly668Arg
ENST00000674675.1:c.246G>C
ENST00000674878.1:c.246G>C
ENST00000674955.1:c.*719G>C ENSP00000502463.1:n.*719G>C
ENST00000675118.1:c.1490G>C
ENST00000675389.1:n.277G>C
ENST00000675615.1:c.2002G>C ENSP00000502413.1:p.Gly668Arg
ENST00000675648.1:n.1377G>C
ENST00000675916.1:c.246G>C
ENST00000676173.1:n.2747G>C
ENST00000676182.1:c.433G>C
ENST00000676228.1:c.*1325G>C ENSP00000502375.1:n.*1325G>C
ENST00000255078.7:c.2002G>C ENSP00000255078.3:p.Gly668Arg
ENST00000539064.5:n.1761G>C
ENST00000543739.5:n.995G>C
NM_002180.2:c.2002G>C , LRG_250t1:c.2002G>C NP_002171.2:p.Gly668Arg
XM_005273974.2:c.991G>C XP_005274031.1:p.Gly331Arg
XM_005273975.2:c.874G>C XP_005274032.1:p.Gly292Arg
XM_011544994.1:c.769G>C XP_011543296.1:p.Gly257Arg
XR_949903.1:n.2104G>C
XM_005273975.3:c.874G>C XP_005274032.1:p.Gly292Arg
XM_017017669.2:c.991G>C XP_016873158.1:p.Gly331Arg
XM_017017670.2:c.991G>C XP_016873159.1:p.Gly331Arg
XR_949903.3:n.2100G>C
NM_002180.3:c.2002G>C MANE Select NP_002171.2:p.Gly668Arg