Canonical Allele Identifier: CA6153529

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68929252G>A , CM000673.2:g.68929252G>A	GRCh38
NC_000011.9:g.68696720G>A , CM000673.1:g.68696720G>A	GRCh37
NC_000011.8:g.68453296G>A	NCBI36
NG_007976.1:g.30402G>A , LRG_250:g.30402G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1130G>A MANE Select	NP_002171.2:p.Cys377Tyr
ENST00000255078.8:c.1130G>A MANE Select	ENSP00000255078.4:p.Cys377Tyr
NM_002180.2:c.1130G>A , LRG_250t1:c.1130G>A	NP_002171.2:p.Cys377Tyr
ENST00000255078.7:c.1130G>A	ENSP00000255078.3:p.Cys377Tyr
ENST00000568742.1:n.240G>A
ENST00000674698.1:n.70G>A
ENST00000674745.1:c.295G>A	ENSP00000502738.1:n.295G>A
ENST00000674775.1:n.330G>A
ENST00000674955.1:c.1130G>A	ENSP00000502463.1:p.Cys377Tyr
ENST00000675118.1:c.618G>A
ENST00000675305.1:c.450G>A	ENSP00000502365.1:n.450G>A
ENST00000675310.1:n.70G>A
ENST00000675493.1:n.291G>A
ENST00000675615.1:c.1130G>A	ENSP00000502413.1:p.Cys377Tyr
ENST00000675648.1:n.505G>A
ENST00000675684.1:c.257G>A	ENSP00000502192.1:p.Cys86Tyr
ENST00000675755.1:n.70G>A
ENST00000676083.1:n.70G>A
ENST00000676173.1:n.1174G>A
ENST00000676228.1:c.*453G>A	ENSP00000502375.1:n.*453G>A
ENST00000676240.1:n.70G>A
ENST00000676400.1:n.70G>A
XM_005273974.2:c.119G>A	XP_005274031.1:p.Cys40Tyr
XM_005273976.1:c.1130G>A	XP_005274033.1:p.Cys377Tyr
XM_005273976.2:c.1130G>A	XP_005274033.1:p.Cys377Tyr
XM_017017669.2:c.119G>A	XP_016873158.1:p.Cys40Tyr
XM_017017670.2:c.119G>A	XP_016873159.1:p.Cys40Tyr
XM_017017671.2:c.1130G>A	XP_016873160.1:p.Cys377Tyr
XR_247198.1:n.1232G>A
XR_949903.1:n.1232G>A
XR_949903.3:n.1228G>A