Canonical Allele Identifier: CA475203907

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68935400C>T , CM000673.2:g.68935400C>T	GRCh38
NC_000011.9:g.68702868C>T , CM000673.1:g.68702868C>T	GRCh37
NC_000011.8:g.68459444C>T	NCBI36
NG_007976.1:g.36550C>T , LRG_250:g.36550C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1734C>T MANE Select	NP_002171.2:p.Ser578=
ENST00000255078.8:c.1734C>T MANE Select	ENSP00000255078.4:p.Ser578=
NM_002180.2:c.1734C>T , LRG_250t1:c.1734C>T	NP_002171.2:p.Ser578=
ENST00000255078.7:c.1734C>T	ENSP00000255078.3:p.Ser578=
ENST00000539064.5:n.1493C>T
ENST00000541229.5:n.429C>T
ENST00000543739.5:n.750-837C>T
ENST00000545475.1:n.330C>T
ENST00000674955.1:c.*451C>T	ENSP00000502463.1:n.*451C>T
ENST00000675118.1:c.1222C>T
ENST00000675615.1:c.1734C>T	ENSP00000502413.1:p.Ser578=
ENST00000675648.1:n.1109C>T
ENST00000676173.1:n.2479C>T
ENST00000676182.1:c.165C>T
ENST00000676228.1:c.*1057C>T	ENSP00000502375.1:n.*1057C>T
XM_005273974.2:c.723C>T	XP_005274031.1:p.Ser241=
XM_005273975.2:c.606C>T	XP_005274032.1:p.Ser202=
XM_005273975.3:c.606C>T	XP_005274032.1:p.Ser202=
XM_011544994.1:c.501C>T	XP_011543296.1:p.Ser167=
XM_017017669.2:c.723C>T	XP_016873158.1:p.Ser241=
XM_017017670.2:c.723C>T	XP_016873159.1:p.Ser241=
XM_017017671.2:c.*61C>T	XP_016873160.1:n.*61C>T
XR_949903.1:n.1836C>T
XR_949903.3:n.1832C>T