Canonical Allele Identifier: CA2839258719

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936507dup , CM000673.2:g.68936507dup	GRCh38
NC_000011.9:g.68703975dup , CM000673.1:g.68703975dup	GRCh37
NC_000011.8:g.68460551dup	NCBI36
NG_007976.1:g.37657dup , LRG_250:g.37657dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2027dup MANE Select	ENSP00000255078.4:p.Ser677LysfsTer29
ENST00000674675.1:c.271dup
ENST00000674878.1:c.271dup
ENST00000674955.1:c.*744dup	ENSP00000502463.1:n.*744dup
ENST00000675118.1:c.1515dup
ENST00000675389.1:n.302dup
ENST00000675615.1:c.2027dup	ENSP00000502413.1:p.Ser677LysfsTer29
ENST00000675648.1:n.1402dup
ENST00000675916.1:c.271dup
ENST00000676173.1:n.2772dup
ENST00000676182.1:c.458dup
ENST00000676228.1:c.*1350dup	ENSP00000502375.1:n.*1350dup
ENST00000255078.7:c.2027dup	ENSP00000255078.3:p.Ser677LysfsTer29
ENST00000539064.5:n.1786dup
ENST00000543739.5:n.1020dup
NM_002180.2:c.2027dup , LRG_250t1:c.2027dup	NP_002171.2:p.Ser677LysfsTer29
XM_005273974.2:c.1016dup	XP_005274031.1:p.Ser340LysfsTer29
XM_005273975.2:c.899dup	XP_005274032.1:p.Ser301LysfsTer29
XM_011544994.1:c.794dup	XP_011543296.1:p.Ser266LysfsTer29
XR_949903.1:n.2129dup
XM_005273975.3:c.899dup	XP_005274032.1:p.Ser301LysfsTer29
XM_017017669.2:c.1016dup	XP_016873158.1:p.Ser340LysfsTer29
XM_017017670.2:c.1016dup	XP_016873159.1:p.Ser340LysfsTer29
XR_949903.3:n.2125dup
NM_002180.3:c.2027dup MANE Select	NP_002171.2:p.Ser677LysfsTer29