Canonical Allele Identifier: CA223385735

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2030760
• ClinVar RCV Id: RCV002871942
• dbSNP Id: rs1024451110
• gnomAD v2: 11-68675731-G-T
• gnomAD v3: 11-68908263-G-T
• gnomAD v4: 11-68908263-G-T
• MyVariant Identifiers: chr11:g.68675731G>T (hg19) ; chr11:g.68908263G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908263G>T , CM000673.2:g.68908263G>T	GRCh38
NC_000011.9:g.68675731G>T , CM000673.1:g.68675731G>T	GRCh37
NC_000011.8:g.68432307G>T	NCBI36
NG_007976.1:g.9413G>T , LRG_250:g.9413G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.375G>T MANE Select	ENSP00000255078.4:p.Gln125His
ENST00000539224.2:c.338G>T
ENST00000674583.1:c.338G>T
ENST00000674597.1:c.186G>T
ENST00000674955.1:c.375G>T	ENSP00000502463.1:p.Gln125His
ENST00000675142.1:n.338G>T
ENST00000675469.1:c.251G>T
ENST00000675615.1:c.375G>T	ENSP00000502413.1:p.Gln125His
ENST00000675674.1:n.338G>T
ENST00000675873.1:c.338G>T
ENST00000676173.1:n.419G>T
ENST00000676228.1:c.375G>T	ENSP00000502375.1:p.Gln125His
ENST00000255078.7:c.375G>T	ENSP00000255078.3:p.Gln125His
ENST00000539224.1:c.375G>T	ENSP00000440465.1:p.Gln125His
ENST00000544541.1:c.*115G>T	ENSP00000443343.1:n.*115G>T
NM_002180.2:c.375G>T , LRG_250t1:c.375G>T	NP_002171.2:p.Gln125His
XM_005273974.2:c.-637G>T	XP_005274031.1:n.-637G>T
XM_005273976.1:c.375G>T	XP_005274033.1:p.Gln125His
XR_247198.1:n.477G>T
XR_949903.1:n.477G>T
XM_005273976.2:c.375G>T	XP_005274033.1:p.Gln125His
XM_017017669.2:c.-539G>T	XP_016873158.1:n.-539G>T
XM_017017671.2:c.375G>T	XP_016873160.1:p.Gln125His
XR_949903.3:n.473G>T
NM_002180.3:c.375G>T MANE Select	NP_002171.2:p.Gln125His