Canonical Allele Identifier: CA381644006

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68911580C>T , CM000673.2:g.68911580C>T	GRCh38
NC_000011.9:g.68679048C>T , CM000673.1:g.68679048C>T	GRCh37
NC_000011.8:g.68435624C>T	NCBI36
NG_007976.1:g.12730C>T , LRG_250:g.12730C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.688C>T MANE Select	NP_002171.2:p.Gln230Ter
ENST00000255078.8:c.688C>T MANE Select	ENSP00000255078.4:p.Gln230Ter
NM_002180.2:c.688C>T , LRG_250t1:c.688C>T	NP_002171.2:p.Gln230Ter
ENST00000255078.7:c.688C>T	ENSP00000255078.3:p.Gln230Ter
ENST00000539224.1:c.*11C>T	ENSP00000440465.1:n.*11C>T
ENST00000539224.2:c.651C>T
ENST00000674583.1:c.651C>T
ENST00000674955.1:c.688C>T	ENSP00000502463.1:p.Gln230Ter
ENST00000675118.1:c.35C>T
ENST00000675142.1:n.651C>T
ENST00000675615.1:c.688C>T	ENSP00000502413.1:p.Gln230Ter
ENST00000675674.1:n.651C>T
ENST00000675683.1:c.98+2949C>T
ENST00000675873.1:c.651C>T
ENST00000676173.1:n.732C>T
ENST00000676228.1:c.*11C>T	ENSP00000502375.1:n.*11C>T
XM_005273974.2:c.-324C>T	XP_005274031.1:n.-324C>T
XM_005273976.1:c.688C>T	XP_005274033.1:p.Gln230Ter
XM_005273976.2:c.688C>T	XP_005274033.1:p.Gln230Ter
XM_017017669.2:c.-324C>T	XP_016873158.1:n.-324C>T
XM_017017671.2:c.688C>T	XP_016873160.1:p.Gln230Ter
XR_247198.1:n.790C>T
XR_949903.1:n.790C>T
XR_949903.3:n.786C>T