Canonical Allele Identifier: CA6153461

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917775A>G , CM000673.2:g.68917775A>G	GRCh38
NC_000011.9:g.68685243A>G , CM000673.1:g.68685243A>G	GRCh37
NC_000011.8:g.68441819A>G	NCBI36
NG_007976.1:g.18925A>G , LRG_250:g.18925A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.952A>G MANE Select	NP_002171.2:p.Asn318Asp
ENST00000255078.8:c.952A>G MANE Select	ENSP00000255078.4:p.Asn318Asp
NM_002180.2:c.952A>G , LRG_250t1:c.952A>G	NP_002171.2:p.Asn318Asp
ENST00000255078.7:c.952A>G	ENSP00000255078.3:p.Asn318Asp
ENST00000674745.1:c.40A>G	ENSP00000502738.1:p.Asn14Asp
ENST00000674775.1:n.40A>G
ENST00000674955.1:c.952A>G	ENSP00000502463.1:p.Asn318Asp
ENST00000675118.1:c.440A>G
ENST00000675119.1:c.379A>G	ENSP00000501861.1:n.379A>G
ENST00000675305.1:c.272A>G	ENSP00000502365.1:n.272A>G
ENST00000675464.1:c.235A>G	ENSP00000502650.1:p.Asn79Asp
ENST00000675493.1:n.40A>G
ENST00000675615.1:c.952A>G	ENSP00000502413.1:p.Asn318Asp
ENST00000675648.1:n.327A>G
ENST00000675683.1:c.339A>G
ENST00000675684.1:c.40A>G	ENSP00000502192.1:p.Asn14Asp
ENST00000676173.1:n.996A>G
ENST00000676228.1:c.*275A>G	ENSP00000502375.1:n.*275A>G
XM_005273974.2:c.-60A>G	XP_005274031.1:n.-60A>G
XM_005273976.1:c.952A>G	XP_005274033.1:p.Asn318Asp
XM_005273976.2:c.952A>G	XP_005274033.1:p.Asn318Asp
XM_017017669.2:c.-60A>G	XP_016873158.1:n.-60A>G
XM_017017670.2:c.-60A>G	XP_016873159.1:n.-60A>G
XM_017017671.2:c.952A>G	XP_016873160.1:p.Asn318Asp
XR_247198.1:n.1054A>G
XR_949903.1:n.1054A>G
XR_949903.3:n.1050A>G