Canonical Allele Identifier: CA347307

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 204303
• ClinVar RCV Id: RCV000240669 ; RCV000789355 ; RCV001836746 ; RCV003765161
• dbSNP Id: rs797044802
• gnomAD v4: 11-68908338-G-T
• MyVariant Identifiers: chr11:g.68675806G>T (hg19) ; chr11:g.68908338G>T (hg38)
• PubMed: PMID:20301462 ; PMID:25568292 ; PMID:27450922

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908338G>T , CM000673.2:g.68908338G>T	GRCh38
NC_000011.9:g.68675806G>T , CM000673.1:g.68675806G>T	GRCh37
NC_000011.8:g.68432382G>T	NCBI36
NG_007976.1:g.9488G>T , LRG_250:g.9488G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.449+1G>T MANE Select	ENSP00000255078.4:n.449+1G>T
ENST00000539224.2:c.412+1G>T
ENST00000674583.1:c.412+1G>T
ENST00000674597.1:c.260+1G>T
ENST00000674955.1:c.449+1G>T	ENSP00000502463.1:n.449+1G>T
ENST00000675142.1:n.412+1G>T
ENST00000675469.1:c.325+1G>T
ENST00000675615.1:c.449+1G>T	ENSP00000502413.1:n.449+1G>T
ENST00000675674.1:n.412+1G>T
ENST00000675873.1:c.412+1G>T
ENST00000676173.1:n.493+1G>T
ENST00000676228.1:c.449+1G>T	ENSP00000502375.1:n.449+1G>T
ENST00000255078.7:c.449+1G>T	ENSP00000255078.3:n.449+1G>T
ENST00000539224.1:c.449+1G>T	ENSP00000440465.1:n.449+1G>T
ENST00000544541.1:c.*189+1G>T	ENSP00000443343.1:n.*189+1G>T
NM_002180.2:c.449+1G>T , LRG_250t1:c.449+1G>T	NP_002171.2:n.449+1G>T
XM_005273974.2:c.-563+1G>T	XP_005274031.1:n.-563+1G>T
XM_005273976.1:c.449+1G>T	XP_005274033.1:n.449+1G>T
XR_247198.1:n.551+1G>T
XR_949903.1:n.551+1G>T
XM_005273976.2:c.449+1G>T	XP_005274033.1:n.449+1G>T
XM_017017669.2:c.-465+1G>T	XP_016873158.1:n.-465+1G>T
XM_017017671.2:c.449+1G>T	XP_016873160.1:n.449+1G>T
XR_949903.3:n.547+1G>T
NM_002180.3:c.449+1G>T MANE Select	NP_002171.2:n.449+1G>T