Canonical Allele Identifier: CA381643209

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1858281579
• gnomAD v3: 11-68908247-A-T
• gnomAD v4: 11-68908247-A-T
• MyVariant Identifiers: chr11:g.68675715A>T (hg19) ; chr11:g.68908247A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908247A>T , CM000673.2:g.68908247A>T	GRCh38
NC_000011.9:g.68675715A>T , CM000673.1:g.68675715A>T	GRCh37
NC_000011.8:g.68432291A>T	NCBI36
NG_007976.1:g.9397A>T , LRG_250:g.9397A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.359A>T MANE Select	ENSP00000255078.4:p.Glu120Val
ENST00000539224.2:c.322A>T
ENST00000674583.1:c.322A>T
ENST00000674597.1:c.170A>T
ENST00000674955.1:c.359A>T	ENSP00000502463.1:p.Glu120Val
ENST00000675142.1:n.322A>T
ENST00000675469.1:c.235A>T
ENST00000675615.1:c.359A>T	ENSP00000502413.1:p.Glu120Val
ENST00000675674.1:n.322A>T
ENST00000675873.1:c.322A>T
ENST00000676173.1:n.403A>T
ENST00000676228.1:c.359A>T	ENSP00000502375.1:p.Glu120Val
ENST00000255078.7:c.359A>T	ENSP00000255078.3:p.Glu120Val
ENST00000539224.1:c.359A>T	ENSP00000440465.1:p.Glu120Val
ENST00000544541.1:c.*99A>T	ENSP00000443343.1:n.*99A>T
NM_002180.2:c.359A>T , LRG_250t1:c.359A>T	NP_002171.2:p.Glu120Val
XM_005273974.2:c.-653A>T	XP_005274031.1:n.-653A>T
XM_005273976.1:c.359A>T	XP_005274033.1:p.Glu120Val
XR_247198.1:n.461A>T
XR_949903.1:n.461A>T
XM_005273976.2:c.359A>T	XP_005274033.1:p.Glu120Val
XM_017017669.2:c.-555A>T	XP_016873158.1:n.-555A>T
XM_017017671.2:c.359A>T	XP_016873160.1:p.Glu120Val
XR_949903.3:n.457A>T
NM_002180.3:c.359A>T MANE Select	NP_002171.2:p.Glu120Val