Canonical Allele Identifier: CA2580084808

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1898919
• ClinVar RCV Id: RCV002570179
• gnomAD v4: 11-68937104-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68937105dup , CM000673.2:g.68937105dup	GRCh38
NC_000011.9:g.68704573dup , CM000673.1:g.68704573dup	GRCh37
NC_000011.8:g.68461149dup	NCBI36
NG_007976.1:g.38255dup , LRG_250:g.38255dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2611+14dup MANE Select	ENSP00000255078.4:n.2611+14dup
ENST00000674675.1:c.756+14dup
ENST00000674878.1:c.716+14dup
ENST00000675118.1:c.2099+14dup
ENST00000675615.1:c.2611+14dup	ENSP00000502413.1:n.2611+14dup
ENST00000675648.1:n.1986+14dup
ENST00000675916.1:c.855+14dup
ENST00000676173.1:n.3356+14dup
ENST00000255078.7:c.2611+14dup	ENSP00000255078.3:n.2611+14dup
ENST00000543739.5:n.1604+14dup
NM_002180.2:c.2611+14dup , LRG_250t1:c.2611+14dup	NP_002171.2:n.2611+14dup
XM_005273974.2:c.1600+14dup	XP_005274031.1:n.1600+14dup
XM_005273975.2:c.1483+14dup	XP_005274032.1:n.1483+14dup
XM_011544994.1:c.1378+14dup	XP_011543296.1:n.1378+14dup
XR_949903.1:n.2713+14dup
XM_005273975.3:c.1483+14dup	XP_005274032.1:n.1483+14dup
XM_017017669.2:c.1600+14dup	XP_016873158.1:n.1600+14dup
XM_017017670.2:c.1600+14dup	XP_016873159.1:n.1600+14dup
XR_949903.3:n.2709+14dup
NM_002180.3:c.2611+14dup MANE Select	NP_002171.2:n.2611+14dup