Canonical Allele Identifier: CA223412133

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68935374C>T , CM000673.2:g.68935374C>T	GRCh38
NC_000011.9:g.68702842C>T , CM000673.1:g.68702842C>T	GRCh37
NC_000011.8:g.68459418C>T	NCBI36
NG_007976.1:g.36524C>T , LRG_250:g.36524C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1708C>T MANE Select	NP_002171.2:p.Arg570Ter
ENST00000255078.8:c.1708C>T MANE Select	ENSP00000255078.4:p.Arg570Ter
NM_002180.2:c.1708C>T , LRG_250t1:c.1708C>T	NP_002171.2:p.Arg570Ter
ENST00000255078.7:c.1708C>T	ENSP00000255078.3:p.Arg570Ter
ENST00000539064.5:n.1467C>T
ENST00000541229.5:n.403C>T
ENST00000543739.5:n.749+816C>T
ENST00000545475.1:n.304C>T
ENST00000674955.1:c.*425C>T	ENSP00000502463.1:n.*425C>T
ENST00000675118.1:c.1196C>T
ENST00000675615.1:c.1708C>T	ENSP00000502413.1:p.Arg570Ter
ENST00000675648.1:n.1083C>T
ENST00000676173.1:n.2453C>T
ENST00000676182.1:c.139C>T
ENST00000676228.1:c.*1031C>T	ENSP00000502375.1:n.*1031C>T
XM_005273974.2:c.697C>T	XP_005274031.1:p.Arg233Ter
XM_005273975.2:c.580C>T	XP_005274032.1:p.Arg194Ter
XM_005273975.3:c.580C>T	XP_005274032.1:p.Arg194Ter
XM_011544994.1:c.475C>T	XP_011543296.1:p.Arg159Ter
XM_017017669.2:c.697C>T	XP_016873158.1:p.Arg233Ter
XM_017017670.2:c.697C>T	XP_016873159.1:p.Arg233Ter
XM_017017671.2:c.*35C>T	XP_016873160.1:n.*35C>T
XR_949903.1:n.1810C>T
XR_949903.3:n.1806C>T