Canonical Allele Identifier: CA381653638

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 618177
• ClinVar RCV Id: RCV000756267
• dbSNP Id: rs1566447207
• MyVariant Identifiers: chr11:g.68704388C>A (hg19) ; chr11:g.68936920C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936920C>A , CM000673.2:g.68936920C>A	GRCh38
NC_000011.9:g.68704388C>A , CM000673.1:g.68704388C>A	GRCh37
NC_000011.8:g.68460964C>A	NCBI36
NG_007976.1:g.38070C>A , LRG_250:g.38070C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2440C>A MANE Select	ENSP00000255078.4:p.Gln814Lys
ENST00000674675.1:c.588-3C>A
ENST00000674878.1:c.548-3C>A
ENST00000675118.1:c.1928C>A
ENST00000675389.1:n.715C>A
ENST00000675615.1:c.2440C>A	ENSP00000502413.1:p.Gln814Lys
ENST00000675648.1:n.1815C>A
ENST00000675916.1:c.684C>A
ENST00000676173.1:n.3185C>A
ENST00000676182.1:c.871C>A
ENST00000676228.1:c.*1763C>A	ENSP00000502375.1:n.*1763C>A
ENST00000255078.7:c.2440C>A	ENSP00000255078.3:p.Gln814Lys
ENST00000539064.5:n.2199C>A
ENST00000543739.5:n.1433C>A
NM_002180.2:c.2440C>A , LRG_250t1:c.2440C>A	NP_002171.2:p.Gln814Lys
XM_005273974.2:c.1429C>A	XP_005274031.1:p.Gln477Lys
XM_005273975.2:c.1312C>A	XP_005274032.1:p.Gln438Lys
XM_011544994.1:c.1207C>A	XP_011543296.1:p.Gln403Lys
XR_949903.1:n.2542C>A
XM_005273975.3:c.1312C>A	XP_005274032.1:p.Gln438Lys
XM_017017669.2:c.1429C>A	XP_016873158.1:p.Gln477Lys
XM_017017670.2:c.1429C>A	XP_016873159.1:p.Gln477Lys
XR_949903.3:n.2538C>A
NM_002180.3:c.2440C>A MANE Select	NP_002171.2:p.Gln814Lys