Canonical Allele Identifier: CA381652732

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936543-C-A
• MyVariant Identifiers: chr11:g.68704011C>A (hg19) ; chr11:g.68936543C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936543C>A , CM000673.2:g.68936543C>A	GRCh38
NC_000011.9:g.68704011C>A , CM000673.1:g.68704011C>A	GRCh37
NC_000011.8:g.68460587C>A	NCBI36
NG_007976.1:g.37693C>A , LRG_250:g.37693C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2063C>A MANE Select	ENSP00000255078.4:p.Ala688Glu
ENST00000674675.1:c.307C>A
ENST00000674878.1:c.307C>A
ENST00000674955.1:c.*780C>A	ENSP00000502463.1:n.*780C>A
ENST00000675118.1:c.1551C>A
ENST00000675389.1:n.338C>A
ENST00000675615.1:c.2063C>A	ENSP00000502413.1:p.Ala688Glu
ENST00000675648.1:n.1438C>A
ENST00000675916.1:c.307C>A
ENST00000676173.1:n.2808C>A
ENST00000676182.1:c.494C>A
ENST00000676228.1:c.*1386C>A	ENSP00000502375.1:n.*1386C>A
ENST00000255078.7:c.2063C>A	ENSP00000255078.3:p.Ala688Glu
ENST00000539064.5:n.1822C>A
ENST00000543739.5:n.1056C>A
NM_002180.2:c.2063C>A , LRG_250t1:c.2063C>A	NP_002171.2:p.Ala688Glu
XM_005273974.2:c.1052C>A	XP_005274031.1:p.Ala351Glu
XM_005273975.2:c.935C>A	XP_005274032.1:p.Ala312Glu
XM_011544994.1:c.830C>A	XP_011543296.1:p.Ala277Glu
XR_949903.1:n.2165C>A
XM_005273975.3:c.935C>A	XP_005274032.1:p.Ala312Glu
XM_017017669.2:c.1052C>A	XP_016873158.1:p.Ala351Glu
XM_017017670.2:c.1052C>A	XP_016873159.1:p.Ala351Glu
XR_949903.3:n.2161C>A
NM_002180.3:c.2063C>A MANE Select	NP_002171.2:p.Ala688Glu