Canonical Allele Identifier: CA381651555

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703747C>A (hg19) ; chr11:g.68936279C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936279C>A , CM000673.2:g.68936279C>A	GRCh38
NC_000011.9:g.68703747C>A , CM000673.1:g.68703747C>A	GRCh37
NC_000011.8:g.68460323C>A	NCBI36
NG_007976.1:g.37429C>A , LRG_250:g.37429C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1799C>A MANE Select	ENSP00000255078.4:p.Ala600Asp
ENST00000674675.1:c.43C>A
ENST00000674878.1:c.43C>A
ENST00000674955.1:c.*516C>A	ENSP00000502463.1:n.*516C>A
ENST00000675118.1:c.1287C>A
ENST00000675389.1:n.74C>A
ENST00000675615.1:c.1799C>A	ENSP00000502413.1:p.Ala600Asp
ENST00000675648.1:n.1174C>A
ENST00000675916.1:c.43C>A
ENST00000676173.1:n.2544C>A
ENST00000676182.1:c.230C>A
ENST00000676228.1:c.*1122C>A	ENSP00000502375.1:n.*1122C>A
ENST00000255078.7:c.1799C>A	ENSP00000255078.3:p.Ala600Asp
ENST00000539064.5:n.1558C>A
ENST00000541229.5:n.494C>A
ENST00000543739.5:n.792C>A
ENST00000545475.1:n.395C>A
NM_002180.2:c.1799C>A , LRG_250t1:c.1799C>A	NP_002171.2:p.Ala600Asp
XM_005273974.2:c.788C>A	XP_005274031.1:p.Ala263Asp
XM_005273975.2:c.671C>A	XP_005274032.1:p.Ala224Asp
XM_011544994.1:c.566C>A	XP_011543296.1:p.Ala189Asp
XR_949903.1:n.1901C>A
XM_005273975.3:c.671C>A	XP_005274032.1:p.Ala224Asp
XM_017017669.2:c.788C>A	XP_016873158.1:p.Ala263Asp
XM_017017670.2:c.788C>A	XP_016873159.1:p.Ala263Asp
XR_949903.3:n.1897C>A
NM_002180.3:c.1799C>A MANE Select	NP_002171.2:p.Ala600Asp