Canonical Allele Identifier: CA2695214855

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936695del , CM000673.2:g.68936695del	GRCh38
NC_000011.9:g.68704163del , CM000673.1:g.68704163del	GRCh37
NC_000011.8:g.68460739del	NCBI36
NG_007976.1:g.37845del , LRG_250:g.37845del

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2215del MANE Select	ENSP00000255078.4:p.Ser739AlafsTer23
ENST00000674675.1:c.459del
ENST00000674878.1:c.459del
ENST00000674955.1:c.*932del	ENSP00000502463.1:n.*932del
ENST00000675118.1:c.1703del
ENST00000675389.1:n.490del
ENST00000675615.1:c.2215del	ENSP00000502413.1:p.Ser739AlafsTer23
ENST00000675648.1:n.1590del
ENST00000675916.1:c.459del
ENST00000676173.1:n.2960del
ENST00000676182.1:c.646del
ENST00000676228.1:c.*1538del	ENSP00000502375.1:n.*1538del
ENST00000255078.7:c.2215del	ENSP00000255078.3:p.Ser739AlafsTer23
ENST00000539064.5:n.1974del
ENST00000543739.5:n.1208del
NM_002180.2:c.2215del , LRG_250t1:c.2215del	NP_002171.2:p.Ser739AlafsTer23
XM_005273974.2:c.1204del	XP_005274031.1:p.Ser402AlafsTer23
XM_005273975.2:c.1087del	XP_005274032.1:p.Ser363AlafsTer23
XM_011544994.1:c.982del	XP_011543296.1:p.Ser328AlafsTer23
XR_949903.1:n.2317del
XM_005273975.3:c.1087del	XP_005274032.1:p.Ser363AlafsTer23
XM_017017669.2:c.1204del	XP_016873158.1:p.Ser402AlafsTer23
XM_017017670.2:c.1204del	XP_016873159.1:p.Ser402AlafsTer23
XR_949903.3:n.2313del
NM_002180.3:c.2215del MANE Select	NP_002171.2:p.Ser739AlafsTer23