Canonical Allele Identifier: CA381643741

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68911479A>G , CM000673.2:g.68911479A>G	GRCh38
NC_000011.9:g.68678947A>G , CM000673.1:g.68678947A>G	GRCh37
NC_000011.8:g.68435523A>G	NCBI36
NG_007976.1:g.12629A>G , LRG_250:g.12629A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.587A>G MANE Select	NP_002171.2:p.Gln196Arg
ENST00000255078.8:c.587A>G MANE Select	ENSP00000255078.4:p.Gln196Arg
NM_002180.2:c.587A>G , LRG_250t1:c.587A>G	NP_002171.2:p.Gln196Arg
ENST00000255078.7:c.587A>G	ENSP00000255078.3:p.Gln196Arg
ENST00000539224.1:c.489A>G	ENSP00000440465.1:p.Pro163=
ENST00000539224.2:c.550A>G
ENST00000544541.1:c.*327A>G	ENSP00000443343.1:n.*327A>G
ENST00000674583.1:c.550A>G
ENST00000674955.1:c.587A>G	ENSP00000502463.1:p.Gln196Arg
ENST00000675142.1:n.550A>G
ENST00000675615.1:c.587A>G	ENSP00000502413.1:p.Gln196Arg
ENST00000675674.1:n.550A>G
ENST00000675683.1:c.98+2848A>G
ENST00000675873.1:c.550A>G
ENST00000676173.1:n.631A>G
ENST00000676228.1:c.489A>G	ENSP00000502375.1:p.Pro163=
XM_005273974.2:c.-425A>G	XP_005274031.1:n.-425A>G
XM_005273976.1:c.587A>G	XP_005274033.1:p.Gln196Arg
XM_005273976.2:c.587A>G	XP_005274033.1:p.Gln196Arg
XM_017017669.2:c.-425A>G	XP_016873158.1:n.-425A>G
XM_017017671.2:c.587A>G	XP_016873160.1:p.Gln196Arg
XR_247198.1:n.689A>G
XR_949903.1:n.689A>G
XR_949903.3:n.685A>G