Canonical Allele Identifier: CA223413633

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs923120662
• MyVariant Identifiers: chr11:g.68704286A>G (hg19) ; chr11:g.68936818A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936818A>G , CM000673.2:g.68936818A>G	GRCh38
NC_000011.9:g.68704286A>G , CM000673.1:g.68704286A>G	GRCh37
NC_000011.8:g.68460862A>G	NCBI36
NG_007976.1:g.37968A>G , LRG_250:g.37968A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2338A>G MANE Select	ENSP00000255078.4:p.Ile780Val
ENST00000674675.1:c.582A>G
ENST00000674878.1:c.547+35A>G
ENST00000674955.1:c.*1055A>G	ENSP00000502463.1:n.*1055A>G
ENST00000675118.1:c.1826A>G
ENST00000675389.1:n.613A>G
ENST00000675615.1:c.2338A>G	ENSP00000502413.1:p.Ile780Val
ENST00000675648.1:n.1713A>G
ENST00000675916.1:c.582A>G
ENST00000676173.1:n.3083A>G
ENST00000676182.1:c.769A>G
ENST00000676228.1:c.*1661A>G	ENSP00000502375.1:n.*1661A>G
ENST00000255078.7:c.2338A>G	ENSP00000255078.3:p.Ile780Val
ENST00000539064.5:n.2097A>G
ENST00000543739.5:n.1331A>G
NM_002180.2:c.2338A>G , LRG_250t1:c.2338A>G	NP_002171.2:p.Ile780Val
XM_005273974.2:c.1327A>G	XP_005274031.1:p.Ile443Val
XM_005273975.2:c.1210A>G	XP_005274032.1:p.Ile404Val
XM_011544994.1:c.1105A>G	XP_011543296.1:p.Ile369Val
XR_949903.1:n.2440A>G
XM_005273975.3:c.1210A>G	XP_005274032.1:p.Ile404Val
XM_017017669.2:c.1327A>G	XP_016873158.1:p.Ile443Val
XM_017017670.2:c.1327A>G	XP_016873159.1:p.Ile443Val
XR_949903.3:n.2436A>G
NM_002180.3:c.2338A>G MANE Select	NP_002171.2:p.Ile780Val