Canonical Allele Identifier: CA381653423

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704317G>C (hg19) ; chr11:g.68936849G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936849G>C , CM000673.2:g.68936849G>C	GRCh38
NC_000011.9:g.68704317G>C , CM000673.1:g.68704317G>C	GRCh37
NC_000011.8:g.68460893G>C	NCBI36
NG_007976.1:g.37999G>C , LRG_250:g.37999G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2369G>C MANE Select	ENSP00000255078.4:p.Arg790Pro
ENST00000674675.1:c.587+26G>C
ENST00000674878.1:c.547+66G>C
ENST00000674955.1:c.*1086G>C	ENSP00000502463.1:n.*1086G>C
ENST00000675118.1:c.1857G>C
ENST00000675389.1:n.644G>C
ENST00000675615.1:c.2369G>C	ENSP00000502413.1:p.Arg790Pro
ENST00000675648.1:n.1744G>C
ENST00000675916.1:c.613G>C
ENST00000676173.1:n.3114G>C
ENST00000676182.1:c.800G>C
ENST00000676228.1:c.*1692G>C	ENSP00000502375.1:n.*1692G>C
ENST00000255078.7:c.2369G>C	ENSP00000255078.3:p.Arg790Pro
ENST00000539064.5:n.2128G>C
ENST00000543739.5:n.1362G>C
NM_002180.2:c.2369G>C , LRG_250t1:c.2369G>C	NP_002171.2:p.Arg790Pro
XM_005273974.2:c.1358G>C	XP_005274031.1:p.Arg453Pro
XM_005273975.2:c.1241G>C	XP_005274032.1:p.Arg414Pro
XM_011544994.1:c.1136G>C	XP_011543296.1:p.Arg379Pro
XR_949903.1:n.2471G>C
XM_005273975.3:c.1241G>C	XP_005274032.1:p.Arg414Pro
XM_017017669.2:c.1358G>C	XP_016873158.1:p.Arg453Pro
XM_017017670.2:c.1358G>C	XP_016873159.1:p.Arg453Pro
XR_949903.3:n.2467G>C
NM_002180.3:c.2369G>C MANE Select	NP_002171.2:p.Arg790Pro