Canonical Allele Identifier: CA2514407474

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68934218-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68934218G>A , CM000673.2:g.68934218G>A	GRCh38
NC_000011.9:g.68701686G>A , CM000673.1:g.68701686G>A	GRCh37
NC_000011.8:g.68458262G>A	NCBI36
NG_007976.1:g.35368G>A , LRG_250:g.35368G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1538-246G>A MANE Select	ENSP00000255078.4:n.1538-246G>A
ENST00000674955.1:c.*255-246G>A	ENSP00000502463.1:n.*255-246G>A
ENST00000675118.1:c.1026-246G>A
ENST00000675205.1:n.184-246G>A
ENST00000675615.1:c.1538-246G>A	ENSP00000502413.1:n.1538-246G>A
ENST00000675648.1:n.913-246G>A
ENST00000675997.1:n.113-246G>A
ENST00000676173.1:n.2283-246G>A
ENST00000676228.1:c.*861-246G>A	ENSP00000502375.1:n.*861-246G>A
ENST00000255078.7:c.1538-246G>A	ENSP00000255078.3:n.1538-246G>A
ENST00000539064.5:n.1297-246G>A
ENST00000541229.5:n.233-246G>A
ENST00000543739.5:n.655-246G>A
NM_002180.2:c.1538-246G>A , LRG_250t1:c.1538-246G>A	NP_002171.2:n.1538-246G>A
XM_005273974.2:c.527-246G>A	XP_005274031.1:n.527-246G>A
XM_005273975.2:c.410-246G>A	XP_005274032.1:n.410-246G>A
XM_011544994.1:c.305-246G>A	XP_011543296.1:n.305-246G>A
XR_949903.1:n.1640-246G>A
XM_005273975.3:c.410-246G>A	XP_005274032.1:n.410-246G>A
XM_017017669.2:c.527-246G>A	XP_016873158.1:n.527-246G>A
XM_017017670.2:c.527-246G>A	XP_016873159.1:n.527-246G>A
XM_017017671.2:c.1538-246G>A	XP_016873160.1:n.1538-246G>A
XR_949903.3:n.1636-246G>A
NM_002180.3:c.1538-246G>A MANE Select	NP_002171.2:n.1538-246G>A