Canonical Allele Identifier: CA381653267

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936791-A-C
• MyVariant Identifiers: chr11:g.68704259A>C (hg19) ; chr11:g.68936791A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936791A>C , CM000673.2:g.68936791A>C	GRCh38
NC_000011.9:g.68704259A>C , CM000673.1:g.68704259A>C	GRCh37
NC_000011.8:g.68460835A>C	NCBI36
NG_007976.1:g.37941A>C , LRG_250:g.37941A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2311A>C MANE Select	ENSP00000255078.4:p.Ser771Arg
ENST00000674675.1:c.555A>C
ENST00000674878.1:c.547+8A>C
ENST00000674955.1:c.*1028A>C	ENSP00000502463.1:n.*1028A>C
ENST00000675118.1:c.1799A>C
ENST00000675389.1:n.586A>C
ENST00000675615.1:c.2311A>C	ENSP00000502413.1:p.Ser771Arg
ENST00000675648.1:n.1686A>C
ENST00000675916.1:c.555A>C
ENST00000676173.1:n.3056A>C
ENST00000676182.1:c.742A>C
ENST00000676228.1:c.*1634A>C	ENSP00000502375.1:n.*1634A>C
ENST00000255078.7:c.2311A>C	ENSP00000255078.3:p.Ser771Arg
ENST00000539064.5:n.2070A>C
ENST00000543739.5:n.1304A>C
NM_002180.2:c.2311A>C , LRG_250t1:c.2311A>C	NP_002171.2:p.Ser771Arg
XM_005273974.2:c.1300A>C	XP_005274031.1:p.Ser434Arg
XM_005273975.2:c.1183A>C	XP_005274032.1:p.Ser395Arg
XM_011544994.1:c.1078A>C	XP_011543296.1:p.Ser360Arg
XR_949903.1:n.2413A>C
XM_005273975.3:c.1183A>C	XP_005274032.1:p.Ser395Arg
XM_017017669.2:c.1300A>C	XP_016873158.1:p.Ser434Arg
XM_017017670.2:c.1300A>C	XP_016873159.1:p.Ser434Arg
XR_949903.3:n.2409A>C
NM_002180.3:c.2311A>C MANE Select	NP_002171.2:p.Ser771Arg