Canonical Allele Identifier: CA6153595

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933357G>A , CM000673.2:g.68933357G>A	GRCh38
NC_000011.9:g.68700825G>A , CM000673.1:g.68700825G>A	GRCh37
NC_000011.8:g.68457401G>A	NCBI36
NG_007976.1:g.34507G>A , LRG_250:g.34507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1294G>A MANE Select	ENSP00000255078.4:p.Ala432Thr
ENST00000536803.2:n.205G>A
ENST00000674955.1:c.*11G>A	ENSP00000502463.1:n.*11G>A
ENST00000675118.1:c.782G>A
ENST00000675205.1:n.59G>A
ENST00000675310.1:n.431G>A
ENST00000675615.1:c.1294G>A	ENSP00000502413.1:p.Ala432Thr
ENST00000675648.1:n.669G>A
ENST00000675997.1:n.113-1107G>A
ENST00000676149.1:n.368G>A
ENST00000676173.1:n.2039G>A
ENST00000676228.1:c.*617G>A	ENSP00000502375.1:n.*617G>A
ENST00000255078.7:c.1294G>A	ENSP00000255078.3:p.Ala432Thr
ENST00000536803.1:n.403G>A
ENST00000537458.5:n.411G>A
ENST00000539064.5:n.1053G>A
ENST00000543739.5:n.411G>A
ENST00000568742.1:n.516G>A
NM_002180.2:c.1294G>A , LRG_250t1:c.1294G>A	NP_002171.2:p.Ala432Thr
XM_005273974.2:c.283G>A	XP_005274031.1:p.Ala95Thr
XM_005273975.2:c.166G>A	XP_005274032.1:p.Ala56Thr
XM_011544994.1:c.61G>A	XP_011543296.1:p.Ala21Thr
XR_247198.1:n.2097G>A
XR_949903.1:n.1396G>A
XM_005273975.3:c.166G>A	XP_005274032.1:p.Ala56Thr
XM_017017669.2:c.283G>A	XP_016873158.1:p.Ala95Thr
XM_017017670.2:c.283G>A	XP_016873159.1:p.Ala95Thr
XM_017017671.2:c.1294G>A	XP_016873160.1:p.Ala432Thr
XR_949903.3:n.1392G>A
NM_002180.3:c.1294G>A MANE Select	NP_002171.2:p.Ala432Thr