Canonical Allele Identifier: CA381643074

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 850799
• ClinVar RCV Id: RCV001055050
• dbSNP Id: rs1858277137
• MyVariant Identifiers: chr11:g.68675648G>C (hg19) ; chr11:g.68908180G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908180G>C , CM000673.2:g.68908180G>C	GRCh38
NC_000011.9:g.68675648G>C , CM000673.1:g.68675648G>C	GRCh37
NC_000011.8:g.68432224G>C	NCBI36
NG_007976.1:g.9330G>C , LRG_250:g.9330G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.292G>C MANE Select	ENSP00000255078.4:p.Gly98Arg
ENST00000539224.2:c.255G>C
ENST00000674583.1:c.255G>C
ENST00000674597.1:c.103G>C
ENST00000674955.1:c.292G>C	ENSP00000502463.1:p.Gly98Arg
ENST00000675142.1:n.255G>C
ENST00000675469.1:c.168G>C
ENST00000675615.1:c.292G>C	ENSP00000502413.1:p.Gly98Arg
ENST00000675674.1:n.255G>C
ENST00000675873.1:c.255G>C
ENST00000676173.1:n.336G>C
ENST00000676228.1:c.292G>C	ENSP00000502375.1:p.Gly98Arg
ENST00000255078.7:c.292G>C	ENSP00000255078.3:p.Gly98Arg
ENST00000539224.1:c.292G>C	ENSP00000440465.1:p.Gly98Arg
ENST00000544541.1:c.*32G>C	ENSP00000443343.1:n.*32G>C
ENST00000545146.1:c.*162G>C	ENSP00000456366.1:n.*162G>C
NM_002180.2:c.292G>C , LRG_250t1:c.292G>C	NP_002171.2:p.Gly98Arg
XM_005273974.2:c.-720G>C	XP_005274031.1:n.-720G>C
XM_005273976.1:c.292G>C	XP_005274033.1:p.Gly98Arg
XR_247198.1:n.394G>C
XR_949903.1:n.394G>C
XM_005273976.2:c.292G>C	XP_005274033.1:p.Gly98Arg
XM_017017669.2:c.-622G>C	XP_016873158.1:n.-622G>C
XM_017017671.2:c.292G>C	XP_016873160.1:p.Gly98Arg
XR_949903.3:n.390G>C
NM_002180.3:c.292G>C MANE Select	NP_002171.2:p.Gly98Arg