Canonical Allele Identifier: CA381652766

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704026G>T (hg19) ; chr11:g.68936558G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936558G>T , CM000673.2:g.68936558G>T	GRCh38
NC_000011.9:g.68704026G>T , CM000673.1:g.68704026G>T	GRCh37
NC_000011.8:g.68460602G>T	NCBI36
NG_007976.1:g.37708G>T , LRG_250:g.37708G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2078G>T MANE Select	ENSP00000255078.4:p.Gly693Val
ENST00000674675.1:c.322G>T
ENST00000674878.1:c.322G>T
ENST00000674955.1:c.*795G>T	ENSP00000502463.1:n.*795G>T
ENST00000675118.1:c.1566G>T
ENST00000675389.1:n.353G>T
ENST00000675615.1:c.2078G>T	ENSP00000502413.1:p.Gly693Val
ENST00000675648.1:n.1453G>T
ENST00000675916.1:c.322G>T
ENST00000676173.1:n.2823G>T
ENST00000676182.1:c.509G>T
ENST00000676228.1:c.*1401G>T	ENSP00000502375.1:n.*1401G>T
ENST00000255078.7:c.2078G>T	ENSP00000255078.3:p.Gly693Val
ENST00000539064.5:n.1837G>T
ENST00000543739.5:n.1071G>T
NM_002180.2:c.2078G>T , LRG_250t1:c.2078G>T	NP_002171.2:p.Gly693Val
XM_005273974.2:c.1067G>T	XP_005274031.1:p.Gly356Val
XM_005273975.2:c.950G>T	XP_005274032.1:p.Gly317Val
XM_011544994.1:c.845G>T	XP_011543296.1:p.Gly282Val
XR_949903.1:n.2180G>T
XM_005273975.3:c.950G>T	XP_005274032.1:p.Gly317Val
XM_017017669.2:c.1067G>T	XP_016873158.1:p.Gly356Val
XM_017017670.2:c.1067G>T	XP_016873159.1:p.Gly356Val
XR_949903.3:n.2176G>T
NM_002180.3:c.2078G>T MANE Select	NP_002171.2:p.Gly693Val