Canonical Allele Identifier: CA6153535

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68929278T>C , CM000673.2:g.68929278T>C	GRCh38
NC_000011.9:g.68696746T>C , CM000673.1:g.68696746T>C	GRCh37
NC_000011.8:g.68453322T>C	NCBI36
NG_007976.1:g.30428T>C , LRG_250:g.30428T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1156T>C MANE Select	NP_002171.2:p.Trp386Arg
ENST00000255078.8:c.1156T>C MANE Select	ENSP00000255078.4:p.Trp386Arg
NM_002180.2:c.1156T>C , LRG_250t1:c.1156T>C	NP_002171.2:p.Trp386Arg
ENST00000255078.7:c.1156T>C	ENSP00000255078.3:p.Trp386Arg
ENST00000568742.1:n.266T>C
ENST00000674698.1:n.96T>C
ENST00000674745.1:c.321T>C	ENSP00000502738.1:n.321T>C
ENST00000674775.1:n.356T>C
ENST00000674955.1:c.1156T>C	ENSP00000502463.1:p.Trp386Arg
ENST00000675118.1:c.644T>C
ENST00000675305.1:c.476T>C	ENSP00000502365.1:n.476T>C
ENST00000675310.1:n.96T>C
ENST00000675493.1:n.317T>C
ENST00000675615.1:c.1156T>C	ENSP00000502413.1:p.Trp386Arg
ENST00000675648.1:n.531T>C
ENST00000675684.1:c.283T>C	ENSP00000502192.1:p.Trp95Arg
ENST00000675755.1:n.96T>C
ENST00000676083.1:n.96T>C
ENST00000676173.1:n.1200T>C
ENST00000676228.1:c.*479T>C	ENSP00000502375.1:n.*479T>C
ENST00000676240.1:n.96T>C
ENST00000676400.1:n.96T>C
XM_005273974.2:c.145T>C	XP_005274031.1:p.Trp49Arg
XM_005273976.1:c.1156T>C	XP_005274033.1:p.Trp386Arg
XM_005273976.2:c.1156T>C	XP_005274033.1:p.Trp386Arg
XM_017017669.2:c.145T>C	XP_016873158.1:p.Trp49Arg
XM_017017670.2:c.145T>C	XP_016873159.1:p.Trp49Arg
XM_017017671.2:c.1156T>C	XP_016873160.1:p.Trp386Arg
XR_247198.1:n.1258T>C
XR_949903.1:n.1258T>C
XR_949903.3:n.1254T>C