Canonical Allele Identifier: CA475280767

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2930785
• ClinVar RCV Id: RCV003790095
• MyVariant Identifiers: chr11:g.68704264C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936796C>G , CM000673.2:g.68936796C>G	GRCh38
NC_000011.9:g.68704264C>G , CM000673.1:g.68704264C>G	GRCh37
NC_000011.8:g.68460840C>G	NCBI36
NG_007976.1:g.37946C>G , LRG_250:g.37946C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2316C>G MANE Select	ENSP00000255078.4:p.Ser772=
ENST00000674675.1:c.560C>G
ENST00000674878.1:c.547+13C>G
ENST00000674955.1:c.*1033C>G	ENSP00000502463.1:n.*1033C>G
ENST00000675118.1:c.1804C>G
ENST00000675389.1:n.591C>G
ENST00000675615.1:c.2316C>G	ENSP00000502413.1:p.Ser772=
ENST00000675648.1:n.1691C>G
ENST00000675916.1:c.560C>G
ENST00000676173.1:n.3061C>G
ENST00000676182.1:c.747C>G
ENST00000676228.1:c.*1639C>G	ENSP00000502375.1:n.*1639C>G
ENST00000255078.7:c.2316C>G	ENSP00000255078.3:p.Ser772=
ENST00000539064.5:n.2075C>G
ENST00000543739.5:n.1309C>G
NM_002180.2:c.2316C>G , LRG_250t1:c.2316C>G	NP_002171.2:p.Ser772=
XM_005273974.2:c.1305C>G	XP_005274031.1:p.Ser435=
XM_005273975.2:c.1188C>G	XP_005274032.1:p.Ser396=
XM_011544994.1:c.1083C>G	XP_011543296.1:p.Ser361=
XR_949903.1:n.2418C>G
XM_005273975.3:c.1188C>G	XP_005274032.1:p.Ser396=
XM_017017669.2:c.1305C>G	XP_016873158.1:p.Ser435=
XM_017017670.2:c.1305C>G	XP_016873159.1:p.Ser435=
XR_949903.3:n.2414C>G
NM_002180.3:c.2316C>G MANE Select	NP_002171.2:p.Ser772=