Canonical Allele Identifier: CA6153777

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1052279
• ClinVar RCV Id: RCV001360430
• dbSNP Id: rs746014167
• ExAC: 11:68703731 C / T
• gnomAD v2: 11-68703731-C-T
• gnomAD v3: 11-68936263-C-T
• gnomAD v4: 11-68936263-C-T
• MyVariant Identifiers: chr11:g.68703731C>T (hg19) ; chr11:g.68936263C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936263C>T , CM000673.2:g.68936263C>T	GRCh38
NC_000011.9:g.68703731C>T , CM000673.1:g.68703731C>T	GRCh37
NC_000011.8:g.68460307C>T	NCBI36
NG_007976.1:g.37413C>T , LRG_250:g.37413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1783C>T MANE Select	ENSP00000255078.4:p.Arg595Trp
ENST00000674675.1:c.27C>T
ENST00000674878.1:c.27C>T
ENST00000674955.1:c.*500C>T	ENSP00000502463.1:n.*500C>T
ENST00000675118.1:c.1271C>T
ENST00000675389.1:n.58C>T
ENST00000675615.1:c.1783C>T	ENSP00000502413.1:p.Arg595Trp
ENST00000675648.1:n.1158C>T
ENST00000675916.1:c.27C>T
ENST00000676173.1:n.2528C>T
ENST00000676182.1:c.214C>T
ENST00000676228.1:c.*1106C>T	ENSP00000502375.1:n.*1106C>T
ENST00000255078.7:c.1783C>T	ENSP00000255078.3:p.Arg595Trp
ENST00000539064.5:n.1542C>T
ENST00000541229.5:n.478C>T
ENST00000543739.5:n.776C>T
ENST00000545475.1:n.379C>T
NM_002180.2:c.1783C>T , LRG_250t1:c.1783C>T	NP_002171.2:p.Arg595Trp
XM_005273974.2:c.772C>T	XP_005274031.1:p.Arg258Trp
XM_005273975.2:c.655C>T	XP_005274032.1:p.Arg219Trp
XM_011544994.1:c.550C>T	XP_011543296.1:p.Arg184Trp
XR_949903.1:n.1885C>T
XM_005273975.3:c.655C>T	XP_005274032.1:p.Arg219Trp
XM_017017669.2:c.772C>T	XP_016873158.1:p.Arg258Trp
XM_017017670.2:c.772C>T	XP_016873159.1:p.Arg258Trp
XR_949903.3:n.1881C>T
NM_002180.3:c.1783C>T MANE Select	NP_002171.2:p.Arg595Trp