Canonical Allele Identifier: CA475193630

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2932993
• ClinVar RCV Id: RCV003798159
• dbSNP Id: rs1240899173
• gnomAD v3: 11-68914990-T-C
• gnomAD v4: 11-68914990-T-C
• MyVariant Identifiers: chr11:g.68682458T>C (hg19) ; chr11:g.68914990T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914990T>C , CM000673.2:g.68914990T>C	GRCh38
NC_000011.9:g.68682458T>C , CM000673.1:g.68682458T>C	GRCh37
NC_000011.8:g.68439034T>C	NCBI36
NG_007976.1:g.16140T>C , LRG_250:g.16140T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.879T>C MANE Select	ENSP00000255078.4:p.Val293=
ENST00000539224.2:c.1008T>C
ENST00000674955.1:c.879T>C	ENSP00000502463.1:p.Val293=
ENST00000675118.1:c.226T>C
ENST00000675119.1:c.168T>C	ENSP00000501861.1:p.Val56=
ENST00000675305.1:c.168T>C	ENSP00000502365.1:p.Val56=
ENST00000675464.1:c.168T>C	ENSP00000502650.1:p.Val56=
ENST00000675615.1:c.879T>C	ENSP00000502413.1:p.Val293=
ENST00000675683.1:c.266T>C
ENST00000676173.1:n.923T>C
ENST00000676228.1:c.*202T>C	ENSP00000502375.1:n.*202T>C
ENST00000676239.1:n.193T>C
ENST00000255078.7:c.879T>C	ENSP00000255078.3:p.Val293=
NM_002180.2:c.879T>C , LRG_250t1:c.879T>C	NP_002171.2:p.Val293=
XM_005273974.2:c.-133T>C	XP_005274031.1:n.-133T>C
XM_005273976.1:c.879T>C	XP_005274033.1:p.Val293=
XR_247198.1:n.981T>C
XR_949903.1:n.981T>C
XM_005273976.2:c.879T>C	XP_005274033.1:p.Val293=
XM_017017669.2:c.-133T>C	XP_016873158.1:n.-133T>C
XM_017017670.2:c.-133T>C	XP_016873159.1:n.-133T>C
XM_017017671.2:c.879T>C	XP_016873160.1:p.Val293=
XR_949903.3:n.977T>C
NM_002180.3:c.879T>C MANE Select	NP_002171.2:p.Val293=