Canonical Allele Identifier: CA475280818

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1594456672
• MyVariant Identifiers: chr11:g.68704312A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936844A>C , CM000673.2:g.68936844A>C	GRCh38
NC_000011.9:g.68704312A>C , CM000673.1:g.68704312A>C	GRCh37
NC_000011.8:g.68460888A>C	NCBI36
NG_007976.1:g.37994A>C , LRG_250:g.37994A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2364A>C MANE Select	ENSP00000255078.4:p.Arg788=
ENST00000674675.1:c.587+21A>C
ENST00000674878.1:c.547+61A>C
ENST00000674955.1:c.*1081A>C	ENSP00000502463.1:n.*1081A>C
ENST00000675118.1:c.1852A>C
ENST00000675389.1:n.639A>C
ENST00000675615.1:c.2364A>C	ENSP00000502413.1:p.Arg788=
ENST00000675648.1:n.1739A>C
ENST00000675916.1:c.608A>C
ENST00000676173.1:n.3109A>C
ENST00000676182.1:c.795A>C
ENST00000676228.1:c.*1687A>C	ENSP00000502375.1:n.*1687A>C
ENST00000255078.7:c.2364A>C	ENSP00000255078.3:p.Arg788=
ENST00000539064.5:n.2123A>C
ENST00000543739.5:n.1357A>C
NM_002180.2:c.2364A>C , LRG_250t1:c.2364A>C	NP_002171.2:p.Arg788=
XM_005273974.2:c.1353A>C	XP_005274031.1:p.Arg451=
XM_005273975.2:c.1236A>C	XP_005274032.1:p.Arg412=
XM_011544994.1:c.1131A>C	XP_011543296.1:p.Arg377=
XR_949903.1:n.2466A>C
XM_005273975.3:c.1236A>C	XP_005274032.1:p.Arg412=
XM_017017669.2:c.1353A>C	XP_016873158.1:p.Arg451=
XM_017017670.2:c.1353A>C	XP_016873159.1:p.Arg451=
XR_949903.3:n.2462A>C
NM_002180.3:c.2364A>C MANE Select	NP_002171.2:p.Arg788=