Canonical Allele Identifier: CA381653316

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704280A>T (hg19) ; chr11:g.68936812A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936812A>T , CM000673.2:g.68936812A>T	GRCh38
NC_000011.9:g.68704280A>T , CM000673.1:g.68704280A>T	GRCh37
NC_000011.8:g.68460856A>T	NCBI36
NG_007976.1:g.37962A>T , LRG_250:g.37962A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2332A>T MANE Select	ENSP00000255078.4:p.Arg778Trp
ENST00000674675.1:c.576A>T
ENST00000674878.1:c.547+29A>T
ENST00000674955.1:c.*1049A>T	ENSP00000502463.1:n.*1049A>T
ENST00000675118.1:c.1820A>T
ENST00000675389.1:n.607A>T
ENST00000675615.1:c.2332A>T	ENSP00000502413.1:p.Arg778Trp
ENST00000675648.1:n.1707A>T
ENST00000675916.1:c.576A>T
ENST00000676173.1:n.3077A>T
ENST00000676182.1:c.763A>T
ENST00000676228.1:c.*1655A>T	ENSP00000502375.1:n.*1655A>T
ENST00000255078.7:c.2332A>T	ENSP00000255078.3:p.Arg778Trp
ENST00000539064.5:n.2091A>T
ENST00000543739.5:n.1325A>T
NM_002180.2:c.2332A>T , LRG_250t1:c.2332A>T	NP_002171.2:p.Arg778Trp
XM_005273974.2:c.1321A>T	XP_005274031.1:p.Arg441Trp
XM_005273975.2:c.1204A>T	XP_005274032.1:p.Arg402Trp
XM_011544994.1:c.1099A>T	XP_011543296.1:p.Arg367Trp
XR_949903.1:n.2434A>T
XM_005273975.3:c.1204A>T	XP_005274032.1:p.Arg402Trp
XM_017017669.2:c.1321A>T	XP_016873158.1:p.Arg441Trp
XM_017017670.2:c.1321A>T	XP_016873159.1:p.Arg441Trp
XR_949903.3:n.2430A>T
NM_002180.3:c.2332A>T MANE Select	NP_002171.2:p.Arg778Trp