Canonical Allele Identifier: CA381643897

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68911539C>A , CM000673.2:g.68911539C>A	GRCh38
NC_000011.9:g.68679007C>A , CM000673.1:g.68679007C>A	GRCh37
NC_000011.8:g.68435583C>A	NCBI36
NG_007976.1:g.12689C>A , LRG_250:g.12689C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.647C>A MANE Select	NP_002171.2:p.Pro216His
ENST00000255078.8:c.647C>A MANE Select	ENSP00000255078.4:p.Pro216His
NM_002180.2:c.647C>A , LRG_250t1:c.647C>A	NP_002171.2:p.Pro216His
ENST00000255078.7:c.647C>A	ENSP00000255078.3:p.Pro216His
ENST00000539224.1:c.549C>A	ENSP00000440465.1:p.Ser183=
ENST00000539224.2:c.610C>A
ENST00000674583.1:c.610C>A
ENST00000674955.1:c.647C>A	ENSP00000502463.1:p.Pro216His
ENST00000675142.1:n.610C>A
ENST00000675615.1:c.647C>A	ENSP00000502413.1:p.Pro216His
ENST00000675674.1:n.610C>A
ENST00000675683.1:c.98+2908C>A
ENST00000675873.1:c.610C>A
ENST00000676173.1:n.691C>A
ENST00000676228.1:c.549C>A	ENSP00000502375.1:p.Ser183=
XM_005273974.2:c.-365C>A	XP_005274031.1:n.-365C>A
XM_005273976.1:c.647C>A	XP_005274033.1:p.Pro216His
XM_005273976.2:c.647C>A	XP_005274033.1:p.Pro216His
XM_017017669.2:c.-365C>A	XP_016873158.1:n.-365C>A
XM_017017671.2:c.647C>A	XP_016873160.1:p.Pro216His
XR_247198.1:n.749C>A
XR_949903.1:n.749C>A
XR_949903.3:n.745C>A