Canonical Allele Identifier: CA939177136

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1858583348
• gnomAD v3: 11-68914815-G-A
• gnomAD v4: 11-68914815-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914815G>A , CM000673.2:g.68914815G>A	GRCh38
NC_000011.9:g.68682283G>A , CM000673.1:g.68682283G>A	GRCh37
NC_000011.8:g.68438859G>A	NCBI36
NG_007976.1:g.15965G>A , LRG_250:g.15965G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.712-8G>A MANE Select	ENSP00000255078.4:n.712-8G>A
ENST00000539224.2:c.841-8G>A
ENST00000674955.1:c.712-8G>A	ENSP00000502463.1:n.712-8G>A
ENST00000675118.1:c.59-8G>A
ENST00000675615.1:c.712-8G>A	ENSP00000502413.1:n.712-8G>A
ENST00000675683.1:c.99-8G>A
ENST00000676173.1:n.756-8G>A
ENST00000676228.1:c.*35-8G>A	ENSP00000502375.1:n.*35-8G>A
ENST00000676239.1:n.26-8G>A
ENST00000255078.7:c.712-8G>A	ENSP00000255078.3:n.712-8G>A
ENST00000539224.1:c.*35-8G>A	ENSP00000440465.1:n.*35-8G>A
NM_002180.2:c.712-8G>A , LRG_250t1:c.712-8G>A	NP_002171.2:n.712-8G>A
XM_005273974.2:c.-300-8G>A	XP_005274031.1:n.-300-8G>A
XM_005273976.1:c.712-8G>A	XP_005274033.1:n.712-8G>A
XR_247198.1:n.814-8G>A
XR_949903.1:n.814-8G>A
XM_005273976.2:c.712-8G>A	XP_005274033.1:n.712-8G>A
XM_017017669.2:c.-300-8G>A	XP_016873158.1:n.-300-8G>A
XM_017017670.2:c.-300-8G>A	XP_016873159.1:n.-300-8G>A
XM_017017671.2:c.712-8G>A	XP_016873160.1:n.712-8G>A
XR_949903.3:n.810-8G>A
NM_002180.3:c.712-8G>A MANE Select	NP_002171.2:n.712-8G>A