Canonical Allele Identifier: CA6153516

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68929193C>T , CM000673.2:g.68929193C>T	GRCh38
NC_000011.9:g.68696661C>T , CM000673.1:g.68696661C>T	GRCh37
NC_000011.8:g.68453237C>T	NCBI36
NG_007976.1:g.30343C>T , LRG_250:g.30343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1071C>T MANE Select	ENSP00000255078.4:p.Ala357=
ENST00000674698.1:n.11C>T
ENST00000674745.1:c.236C>T	ENSP00000502738.1:n.236C>T
ENST00000674775.1:n.271C>T
ENST00000674955.1:c.1071C>T	ENSP00000502463.1:p.Ala357=
ENST00000675118.1:c.559C>T
ENST00000675305.1:c.391C>T	ENSP00000502365.1:n.391C>T
ENST00000675310.1:n.11C>T
ENST00000675493.1:n.232C>T
ENST00000675615.1:c.1071C>T	ENSP00000502413.1:p.Ala357=
ENST00000675648.1:n.446C>T
ENST00000675684.1:c.198C>T	ENSP00000502192.1:p.Ala66=
ENST00000675755.1:n.11C>T
ENST00000676083.1:n.11C>T
ENST00000676173.1:n.1115C>T
ENST00000676228.1:c.*394C>T	ENSP00000502375.1:n.*394C>T
ENST00000676240.1:n.11C>T
ENST00000676400.1:n.11C>T
ENST00000255078.7:c.1071C>T	ENSP00000255078.3:p.Ala357=
ENST00000568742.1:n.181C>T
NM_002180.2:c.1071C>T , LRG_250t1:c.1071C>T	NP_002171.2:p.Ala357=
XM_005273974.2:c.60C>T	XP_005274031.1:p.Ala20=
XM_005273976.1:c.1071C>T	XP_005274033.1:p.Ala357=
XR_247198.1:n.1173C>T
XR_949903.1:n.1173C>T
XM_005273976.2:c.1071C>T	XP_005274033.1:p.Ala357=
XM_017017669.2:c.60C>T	XP_016873158.1:p.Ala20=
XM_017017670.2:c.60C>T	XP_016873159.1:p.Ala20=
XM_017017671.2:c.1071C>T	XP_016873160.1:p.Ala357=
XR_949903.3:n.1169C>T
NM_002180.3:c.1071C>T MANE Select	NP_002171.2:p.Ala357=