Canonical Allele Identifier: CA475204250

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936265-G-C
• MyVariant Identifiers: chr11:g.68703733G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936265G>C , CM000673.2:g.68936265G>C	GRCh38
NC_000011.9:g.68703733G>C , CM000673.1:g.68703733G>C	GRCh37
NC_000011.8:g.68460309G>C	NCBI36
NG_007976.1:g.37415G>C , LRG_250:g.37415G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1785G>C MANE Select	ENSP00000255078.4:p.Arg595=
ENST00000674675.1:c.29G>C
ENST00000674878.1:c.29G>C
ENST00000674955.1:c.*502G>C	ENSP00000502463.1:n.*502G>C
ENST00000675118.1:c.1273G>C
ENST00000675389.1:n.60G>C
ENST00000675615.1:c.1785G>C	ENSP00000502413.1:p.Arg595=
ENST00000675648.1:n.1160G>C
ENST00000675916.1:c.29G>C
ENST00000676173.1:n.2530G>C
ENST00000676182.1:c.216G>C
ENST00000676228.1:c.*1108G>C	ENSP00000502375.1:n.*1108G>C
ENST00000255078.7:c.1785G>C	ENSP00000255078.3:p.Arg595=
ENST00000539064.5:n.1544G>C
ENST00000541229.5:n.480G>C
ENST00000543739.5:n.778G>C
ENST00000545475.1:n.381G>C
NM_002180.2:c.1785G>C , LRG_250t1:c.1785G>C	NP_002171.2:p.Arg595=
XM_005273974.2:c.774G>C	XP_005274031.1:p.Arg258=
XM_005273975.2:c.657G>C	XP_005274032.1:p.Arg219=
XM_011544994.1:c.552G>C	XP_011543296.1:p.Arg184=
XR_949903.1:n.1887G>C
XM_005273975.3:c.657G>C	XP_005274032.1:p.Arg219=
XM_017017669.2:c.774G>C	XP_016873158.1:p.Arg258=
XM_017017670.2:c.774G>C	XP_016873159.1:p.Arg258=
XR_949903.3:n.1883G>C
NM_002180.3:c.1785G>C MANE Select	NP_002171.2:p.Arg595=