Canonical Allele Identifier: CA475280799

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704301A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936833A>C , CM000673.2:g.68936833A>C	GRCh38
NC_000011.9:g.68704301A>C , CM000673.1:g.68704301A>C	GRCh37
NC_000011.8:g.68460877A>C	NCBI36
NG_007976.1:g.37983A>C , LRG_250:g.37983A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2353A>C MANE Select	ENSP00000255078.4:p.Arg785=
ENST00000674675.1:c.587+10A>C
ENST00000674878.1:c.547+50A>C
ENST00000674955.1:c.*1070A>C	ENSP00000502463.1:n.*1070A>C
ENST00000675118.1:c.1841A>C
ENST00000675389.1:n.628A>C
ENST00000675615.1:c.2353A>C	ENSP00000502413.1:p.Arg785=
ENST00000675648.1:n.1728A>C
ENST00000675916.1:c.597A>C
ENST00000676173.1:n.3098A>C
ENST00000676182.1:c.784A>C
ENST00000676228.1:c.*1676A>C	ENSP00000502375.1:n.*1676A>C
ENST00000255078.7:c.2353A>C	ENSP00000255078.3:p.Arg785=
ENST00000539064.5:n.2112A>C
ENST00000543739.5:n.1346A>C
NM_002180.2:c.2353A>C , LRG_250t1:c.2353A>C	NP_002171.2:p.Arg785=
XM_005273974.2:c.1342A>C	XP_005274031.1:p.Arg448=
XM_005273975.2:c.1225A>C	XP_005274032.1:p.Arg409=
XM_011544994.1:c.1120A>C	XP_011543296.1:p.Arg374=
XR_949903.1:n.2455A>C
XM_005273975.3:c.1225A>C	XP_005274032.1:p.Arg409=
XM_017017669.2:c.1342A>C	XP_016873158.1:p.Arg448=
XM_017017670.2:c.1342A>C	XP_016873159.1:p.Arg448=
XR_949903.3:n.2451A>C
NM_002180.3:c.2353A>C MANE Select	NP_002171.2:p.Arg785=