Canonical Allele Identifier: CA381653358

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704296G>T (hg19) ; chr11:g.68936828G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936828G>T , CM000673.2:g.68936828G>T	GRCh38
NC_000011.9:g.68704296G>T , CM000673.1:g.68704296G>T	GRCh37
NC_000011.8:g.68460872G>T	NCBI36
NG_007976.1:g.37978G>T , LRG_250:g.37978G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2348G>T MANE Select	ENSP00000255078.4:p.Ser783Ile
ENST00000674675.1:c.587+5G>T
ENST00000674878.1:c.547+45G>T
ENST00000674955.1:c.*1065G>T	ENSP00000502463.1:n.*1065G>T
ENST00000675118.1:c.1836G>T
ENST00000675389.1:n.623G>T
ENST00000675615.1:c.2348G>T	ENSP00000502413.1:p.Ser783Ile
ENST00000675648.1:n.1723G>T
ENST00000675916.1:c.592G>T
ENST00000676173.1:n.3093G>T
ENST00000676182.1:c.779G>T
ENST00000676228.1:c.*1671G>T	ENSP00000502375.1:n.*1671G>T
ENST00000255078.7:c.2348G>T	ENSP00000255078.3:p.Ser783Ile
ENST00000539064.5:n.2107G>T
ENST00000543739.5:n.1341G>T
NM_002180.2:c.2348G>T , LRG_250t1:c.2348G>T	NP_002171.2:p.Ser783Ile
XM_005273974.2:c.1337G>T	XP_005274031.1:p.Ser446Ile
XM_005273975.2:c.1220G>T	XP_005274032.1:p.Ser407Ile
XM_011544994.1:c.1115G>T	XP_011543296.1:p.Ser372Ile
XR_949903.1:n.2450G>T
XM_005273975.3:c.1220G>T	XP_005274032.1:p.Ser407Ile
XM_017017669.2:c.1337G>T	XP_016873158.1:p.Ser446Ile
XM_017017670.2:c.1337G>T	XP_016873159.1:p.Ser446Ile
XR_949903.3:n.2446G>T
NM_002180.3:c.2348G>T MANE Select	NP_002171.2:p.Ser783Ile