Canonical Allele Identifier: CA6153861

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs753469360
• ExAC: 11:68704165 C / G
• gnomAD v2: 11-68704165-C-G
• MyVariant Identifiers: chr11:g.68704165C>G (hg19) ; chr11:g.68936697C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936697C>G , CM000673.2:g.68936697C>G	GRCh38
NC_000011.9:g.68704165C>G , CM000673.1:g.68704165C>G	GRCh37
NC_000011.8:g.68460741C>G	NCBI36
NG_007976.1:g.37847C>G , LRG_250:g.37847C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2217C>G MANE Select	ENSP00000255078.4:p.Ser739Arg
ENST00000674675.1:c.461C>G
ENST00000674878.1:c.461C>G
ENST00000674955.1:c.*934C>G	ENSP00000502463.1:n.*934C>G
ENST00000675118.1:c.1705C>G
ENST00000675389.1:n.492C>G
ENST00000675615.1:c.2217C>G	ENSP00000502413.1:p.Ser739Arg
ENST00000675648.1:n.1592C>G
ENST00000675916.1:c.461C>G
ENST00000676173.1:n.2962C>G
ENST00000676182.1:c.648C>G
ENST00000676228.1:c.*1540C>G	ENSP00000502375.1:n.*1540C>G
ENST00000255078.7:c.2217C>G	ENSP00000255078.3:p.Ser739Arg
ENST00000539064.5:n.1976C>G
ENST00000543739.5:n.1210C>G
NM_002180.2:c.2217C>G , LRG_250t1:c.2217C>G	NP_002171.2:p.Ser739Arg
XM_005273974.2:c.1206C>G	XP_005274031.1:p.Ser402Arg
XM_005273975.2:c.1089C>G	XP_005274032.1:p.Ser363Arg
XM_011544994.1:c.984C>G	XP_011543296.1:p.Ser328Arg
XR_949903.1:n.2319C>G
XM_005273975.3:c.1089C>G	XP_005274032.1:p.Ser363Arg
XM_017017669.2:c.1206C>G	XP_016873158.1:p.Ser402Arg
XM_017017670.2:c.1206C>G	XP_016873159.1:p.Ser402Arg
XR_949903.3:n.2315C>G
NM_002180.3:c.2217C>G MANE Select	NP_002171.2:p.Ser739Arg