Canonical Allele Identifier: CA6154070
Community Standard Title: NM_002180.3(IGHMBP2):c.2960G>A (p.Arg987Gln)
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68939709G>A , CM000673.2:g.68939709G>A GRCh38
NC_000011.9:g.68707177G>A , CM000673.1:g.68707177G>A GRCh37
NC_000011.8:g.68463753G>A NCBI36
NG_007976.1:g.40859G>A , LRG_250:g.40859G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.2960G>A MANE Select NP_002171.2:p.Arg987Gln
ENST00000255078.8:c.2960G>A MANE Select ENSP00000255078.4:p.Arg987Gln
NM_002180.2:c.2960G>A , LRG_250t1:c.2960G>A NP_002171.2:p.Arg987Gln
ENST00000255078.7:c.2960G>A ENSP00000255078.3:p.Arg987Gln
ENST00000543739.5:n.1953G>A
ENST00000544521.1:n.791G>A
ENST00000675118.1:c.2448G>A
ENST00000675615.1:c.*159G>A ENSP00000502413.1:n.*159G>A
ENST00000675648.1:n.2522G>A
ENST00000675916.1:c.1391G>A
ENST00000676173.1:n.3705G>A
XM_005273974.2:c.1949G>A XP_005274031.1:p.Arg650Gln
XM_005273975.2:c.1832G>A XP_005274032.1:p.Arg611Gln
XM_005273975.3:c.1832G>A XP_005274032.1:p.Arg611Gln
XM_011544994.1:c.1727G>A XP_011543296.1:p.Arg576Gln
XM_017017669.2:c.1949G>A XP_016873158.1:p.Arg650Gln
XM_017017670.2:c.1949G>A XP_016873159.1:p.Arg650Gln
XR_949903.1:n.3249G>A
XR_949903.3:n.3245G>A