Canonical Allele Identifier: CA2614746400

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68908672-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908672C>A , CM000673.2:g.68908672C>A	GRCh38
NC_000011.9:g.68676140C>A , CM000673.1:g.68676140C>A	GRCh37
NC_000011.8:g.68432716C>A	NCBI36
NG_007976.1:g.9822C>A , LRG_250:g.9822C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.547+41C>A MANE Select	ENSP00000255078.4:n.547+41C>A
ENST00000539224.2:c.510+41C>A
ENST00000674583.1:c.510+41C>A
ENST00000674955.1:c.547+41C>A	ENSP00000502463.1:n.547+41C>A
ENST00000675142.1:n.510+41C>A
ENST00000675615.1:c.547+41C>A	ENSP00000502413.1:n.547+41C>A
ENST00000675674.1:n.510+41C>A
ENST00000675683.1:c.98+41C>A
ENST00000675873.1:c.510+41C>A
ENST00000676173.1:n.591+41C>A
ENST00000676228.1:c.449+335C>A	ENSP00000502375.1:n.449+335C>A
ENST00000255078.7:c.547+41C>A	ENSP00000255078.3:n.547+41C>A
ENST00000539224.1:c.449+335C>A	ENSP00000440465.1:n.449+335C>A
ENST00000544541.1:c.*287+41C>A	ENSP00000443343.1:n.*287+41C>A
NM_002180.2:c.547+41C>A , LRG_250t1:c.547+41C>A	NP_002171.2:n.547+41C>A
XM_005273974.2:c.-465+41C>A	XP_005274031.1:n.-465+41C>A
XM_005273976.1:c.547+41C>A	XP_005274033.1:n.547+41C>A
XR_247198.1:n.649+41C>A
XR_949903.1:n.649+41C>A
XM_005273976.2:c.547+41C>A	XP_005274033.1:n.547+41C>A
XM_017017669.2:c.-465+335C>A	XP_016873158.1:n.-465+335C>A
XM_017017671.2:c.547+41C>A	XP_016873160.1:n.547+41C>A
XR_949903.3:n.645+41C>A
NM_002180.3:c.547+41C>A MANE Select	NP_002171.2:n.547+41C>A