Canonical Allele Identifier: CA6153781

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2935593
• ClinVar RCV Id: RCV003793687
• dbSNP Id: rs376736864
• ExAC: 11:68703751 C / T
• gnomAD v4: 11-68936283-C-T
• MyVariant Identifiers: chr11:g.68703751C>T (hg19) ; chr11:g.68936283C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936283C>T , CM000673.2:g.68936283C>T	GRCh38
NC_000011.9:g.68703751C>T , CM000673.1:g.68703751C>T	GRCh37
NC_000011.8:g.68460327C>T	NCBI36
NG_007976.1:g.37433C>T , LRG_250:g.37433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1803C>T MANE Select	ENSP00000255078.4:p.Val601=
ENST00000674675.1:c.47C>T
ENST00000674878.1:c.47C>T
ENST00000674955.1:c.*520C>T	ENSP00000502463.1:n.*520C>T
ENST00000675118.1:c.1291C>T
ENST00000675389.1:n.78C>T
ENST00000675615.1:c.1803C>T	ENSP00000502413.1:p.Val601=
ENST00000675648.1:n.1178C>T
ENST00000675916.1:c.47C>T
ENST00000676173.1:n.2548C>T
ENST00000676182.1:c.234C>T
ENST00000676228.1:c.*1126C>T	ENSP00000502375.1:n.*1126C>T
ENST00000255078.7:c.1803C>T	ENSP00000255078.3:p.Val601=
ENST00000539064.5:n.1562C>T
ENST00000541229.5:n.498C>T
ENST00000543739.5:n.796C>T
ENST00000545475.1:n.399C>T
NM_002180.2:c.1803C>T , LRG_250t1:c.1803C>T	NP_002171.2:p.Val601=
XM_005273974.2:c.792C>T	XP_005274031.1:p.Val264=
XM_005273975.2:c.675C>T	XP_005274032.1:p.Val225=
XM_011544994.1:c.570C>T	XP_011543296.1:p.Val190=
XR_949903.1:n.1905C>T
XM_005273975.3:c.675C>T	XP_005274032.1:p.Val225=
XM_017017669.2:c.792C>T	XP_016873158.1:p.Val264=
XM_017017670.2:c.792C>T	XP_016873159.1:p.Val264=
XR_949903.3:n.1901C>T
NM_002180.3:c.1803C>T MANE Select	NP_002171.2:p.Val601=