Canonical Allele Identifier: CA6153883

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 305852
• ClinVar RCV Id: RCV001173583 ; RCV002446557
• dbSNP Id: rs11228414
• ExAC: 11:68704270 A / G
• gnomAD v2: 11-68704270-A-G
• gnomAD v3: 11-68936802-A-G
• gnomAD v4: 11-68936802-A-G
• MyVariant Identifiers: chr11:g.68704270A>G (hg19) ; chr11:g.68936802A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936802A>G , CM000673.2:g.68936802A>G	GRCh38
NC_000011.9:g.68704270A>G , CM000673.1:g.68704270A>G	GRCh37
NC_000011.8:g.68460846A>G	NCBI36
NG_007976.1:g.37952A>G , LRG_250:g.37952A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2322A>G MANE Select	ENSP00000255078.4:p.Glu774=
ENST00000674675.1:c.566A>G
ENST00000674878.1:c.547+19A>G
ENST00000674955.1:c.*1039A>G	ENSP00000502463.1:n.*1039A>G
ENST00000675118.1:c.1810A>G
ENST00000675389.1:n.597A>G
ENST00000675615.1:c.2322A>G	ENSP00000502413.1:p.Glu774=
ENST00000675648.1:n.1697A>G
ENST00000675916.1:c.566A>G
ENST00000676173.1:n.3067A>G
ENST00000676182.1:c.753A>G
ENST00000676228.1:c.*1645A>G	ENSP00000502375.1:n.*1645A>G
ENST00000255078.7:c.2322A>G	ENSP00000255078.3:p.Glu774=
ENST00000539064.5:n.2081A>G
ENST00000543739.5:n.1315A>G
NM_002180.2:c.2322A>G , LRG_250t1:c.2322A>G	NP_002171.2:p.Glu774=
XM_005273974.2:c.1311A>G	XP_005274031.1:p.Glu437=
XM_005273975.2:c.1194A>G	XP_005274032.1:p.Glu398=
XM_011544994.1:c.1089A>G	XP_011543296.1:p.Glu363=
XR_949903.1:n.2424A>G
XM_005273975.3:c.1194A>G	XP_005274032.1:p.Glu398=
XM_017017669.2:c.1311A>G	XP_016873158.1:p.Glu437=
XM_017017670.2:c.1311A>G	XP_016873159.1:p.Glu437=
XR_949903.3:n.2420A>G
NM_002180.3:c.2322A>G MANE Select	NP_002171.2:p.Glu774=