Canonical Allele Identifier: CA381653169

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1920975
• ClinVar RCV Id: RCV002608546
• dbSNP Id: rs1446236371
• MyVariant Identifiers: chr11:g.68704213G>T (hg19) ; chr11:g.68936745G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936745G>T , CM000673.2:g.68936745G>T	GRCh38
NC_000011.9:g.68704213G>T , CM000673.1:g.68704213G>T	GRCh37
NC_000011.8:g.68460789G>T	NCBI36
NG_007976.1:g.37895G>T , LRG_250:g.37895G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2265G>T MANE Select	ENSP00000255078.4:p.Arg755Ser
ENST00000674675.1:c.509G>T
ENST00000674878.1:c.509G>T
ENST00000674955.1:c.*982G>T	ENSP00000502463.1:n.*982G>T
ENST00000675118.1:c.1753G>T
ENST00000675389.1:n.540G>T
ENST00000675615.1:c.2265G>T	ENSP00000502413.1:p.Arg755Ser
ENST00000675648.1:n.1640G>T
ENST00000675916.1:c.509G>T
ENST00000676173.1:n.3010G>T
ENST00000676182.1:c.696G>T
ENST00000676228.1:c.*1588G>T	ENSP00000502375.1:n.*1588G>T
ENST00000255078.7:c.2265G>T	ENSP00000255078.3:p.Arg755Ser
ENST00000539064.5:n.2024G>T
ENST00000543739.5:n.1258G>T
NM_002180.2:c.2265G>T , LRG_250t1:c.2265G>T	NP_002171.2:p.Arg755Ser
XM_005273974.2:c.1254G>T	XP_005274031.1:p.Arg418Ser
XM_005273975.2:c.1137G>T	XP_005274032.1:p.Arg379Ser
XM_011544994.1:c.1032G>T	XP_011543296.1:p.Arg344Ser
XR_949903.1:n.2367G>T
XM_005273975.3:c.1137G>T	XP_005274032.1:p.Arg379Ser
XM_017017669.2:c.1254G>T	XP_016873158.1:p.Arg418Ser
XM_017017670.2:c.1254G>T	XP_016873159.1:p.Arg418Ser
XR_949903.3:n.2363G>T
NM_002180.3:c.2265G>T MANE Select	NP_002171.2:p.Arg755Ser