Canonical Allele Identifier: CA381647789

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68929324A>G , CM000673.2:g.68929324A>G	GRCh38
NC_000011.9:g.68696792A>G , CM000673.1:g.68696792A>G	GRCh37
NC_000011.8:g.68453368A>G	NCBI36
NG_007976.1:g.30474A>G , LRG_250:g.30474A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1202A>G MANE Select	NP_002171.2:p.His401Arg
ENST00000255078.8:c.1202A>G MANE Select	ENSP00000255078.4:p.His401Arg
NM_002180.2:c.1202A>G , LRG_250t1:c.1202A>G	NP_002171.2:p.His401Arg
ENST00000255078.7:c.1202A>G	ENSP00000255078.3:p.His401Arg
ENST00000568742.1:n.312A>G
ENST00000674698.1:n.142A>G
ENST00000674745.1:c.367A>G	ENSP00000502738.1:n.367A>G
ENST00000674775.1:n.402A>G
ENST00000674955.1:c.1202A>G	ENSP00000502463.1:p.His401Arg
ENST00000675118.1:c.690A>G
ENST00000675305.1:c.522A>G	ENSP00000502365.1:n.522A>G
ENST00000675310.1:n.142A>G
ENST00000675493.1:n.363A>G
ENST00000675615.1:c.1202A>G	ENSP00000502413.1:p.His401Arg
ENST00000675648.1:n.577A>G
ENST00000675684.1:c.329A>G	ENSP00000502192.1:p.His110Arg
ENST00000675755.1:n.142A>G
ENST00000676083.1:n.142A>G
ENST00000676173.1:n.1246A>G
ENST00000676228.1:c.*525A>G	ENSP00000502375.1:n.*525A>G
ENST00000676240.1:n.142A>G
ENST00000676400.1:n.142A>G
XM_005273974.2:c.191A>G	XP_005274031.1:p.His64Arg
XM_005273976.1:c.1202A>G	XP_005274033.1:p.His401Arg
XM_005273976.2:c.1202A>G	XP_005274033.1:p.His401Arg
XM_017017669.2:c.191A>G	XP_016873158.1:p.His64Arg
XM_017017670.2:c.191A>G	XP_016873159.1:p.His64Arg
XM_017017671.2:c.1202A>G	XP_016873160.1:p.His401Arg
XR_247198.1:n.1304A>G
XR_949903.1:n.1304A>G
XR_949903.3:n.1300A>G