Canonical Allele Identifier: CA6153989
Community Standard Title: NM_002180.3(IGHMBP2):c.2713G>A (p.Gly905Ser)
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68938283G>A , CM000673.2:g.68938283G>A GRCh38
NC_000011.9:g.68705751G>A , CM000673.1:g.68705751G>A GRCh37
NC_000011.8:g.68462327G>A NCBI36
NG_007976.1:g.39433G>A , LRG_250:g.39433G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.2713G>A MANE Select NP_002171.2:p.Gly905Ser
ENST00000255078.8:c.2713G>A MANE Select ENSP00000255078.4:p.Gly905Ser
NM_002180.2:c.2713G>A , LRG_250t1:c.2713G>A NP_002171.2:p.Gly905Ser
ENST00000255078.7:c.2713G>A ENSP00000255078.3:p.Gly905Ser
ENST00000543739.5:n.1706G>A
ENST00000544521.1:n.544G>A
ENST00000674675.1:c.858G>A
ENST00000674878.1:c.818G>A
ENST00000675118.1:c.2201G>A
ENST00000675615.1:c.2611+1192G>A ENSP00000502413.1:n.2611+1192G>A
ENST00000675648.1:n.2088G>A
ENST00000675916.1:c.957G>A
ENST00000676173.1:n.3458G>A
XM_005273974.2:c.1702G>A XP_005274031.1:p.Gly568Ser
XM_005273975.2:c.1585G>A XP_005274032.1:p.Gly529Ser
XM_005273975.3:c.1585G>A XP_005274032.1:p.Gly529Ser
XM_011544994.1:c.1480G>A XP_011543296.1:p.Gly494Ser
XM_017017669.2:c.1702G>A XP_016873158.1:p.Gly568Ser
XM_017017670.2:c.1702G>A XP_016873159.1:p.Gly568Ser
XR_949903.1:n.2815G>A
XR_949903.3:n.2811G>A