Canonical Allele Identifier: CA475187848

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68908576-C-A
• MyVariant Identifiers: chr11:g.68676044C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908576C>A , CM000673.2:g.68908576C>A	GRCh38
NC_000011.9:g.68676044C>A , CM000673.1:g.68676044C>A	GRCh37
NC_000011.8:g.68432620C>A	NCBI36
NG_007976.1:g.9726C>A , LRG_250:g.9726C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.492C>A MANE Select	ENSP00000255078.4:p.Ser164=
ENST00000539224.2:c.455C>A
ENST00000674583.1:c.455C>A
ENST00000674597.1:c.303C>A
ENST00000674955.1:c.492C>A	ENSP00000502463.1:p.Ser164=
ENST00000675142.1:n.455C>A
ENST00000675469.1:c.368C>A
ENST00000675615.1:c.492C>A	ENSP00000502413.1:p.Ser164=
ENST00000675674.1:n.455C>A
ENST00000675683.1:c.43C>A
ENST00000675873.1:c.455C>A
ENST00000676173.1:n.536C>A
ENST00000676228.1:c.449+239C>A	ENSP00000502375.1:n.449+239C>A
ENST00000255078.7:c.492C>A	ENSP00000255078.3:p.Ser164=
ENST00000539224.1:c.449+239C>A	ENSP00000440465.1:n.449+239C>A
ENST00000544541.1:c.*232C>A	ENSP00000443343.1:n.*232C>A
NM_002180.2:c.492C>A , LRG_250t1:c.492C>A	NP_002171.2:p.Ser164=
XM_005273974.2:c.-520C>A	XP_005274031.1:n.-520C>A
XM_005273976.1:c.492C>A	XP_005274033.1:p.Ser164=
XR_247198.1:n.594C>A
XR_949903.1:n.594C>A
XM_005273976.2:c.492C>A	XP_005274033.1:p.Ser164=
XM_017017669.2:c.-465+239C>A	XP_016873158.1:n.-465+239C>A
XM_017017671.2:c.492C>A	XP_016873160.1:p.Ser164=
XR_949903.3:n.590C>A
NM_002180.3:c.492C>A MANE Select	NP_002171.2:p.Ser164=