Canonical Allele Identifier: CA381644278

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68682322T>A (hg19) ; chr11:g.68914854T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914854T>A , CM000673.2:g.68914854T>A	GRCh38
NC_000011.9:g.68682322T>A , CM000673.1:g.68682322T>A	GRCh37
NC_000011.8:g.68438898T>A	NCBI36
NG_007976.1:g.16004T>A , LRG_250:g.16004T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.743T>A MANE Select	ENSP00000255078.4:p.Val248Glu
ENST00000539224.2:c.872T>A
ENST00000674955.1:c.743T>A	ENSP00000502463.1:p.Val248Glu
ENST00000675118.1:c.90T>A
ENST00000675119.1:c.32T>A	ENSP00000501861.1:p.Val11Glu
ENST00000675305.1:c.32T>A	ENSP00000502365.1:p.Val11Glu
ENST00000675464.1:c.32T>A	ENSP00000502650.1:p.Val11Glu
ENST00000675615.1:c.743T>A	ENSP00000502413.1:p.Val248Glu
ENST00000675683.1:c.130T>A
ENST00000676173.1:n.787T>A
ENST00000676228.1:c.*66T>A	ENSP00000502375.1:n.*66T>A
ENST00000676239.1:n.57T>A
ENST00000255078.7:c.743T>A	ENSP00000255078.3:p.Val248Glu
ENST00000539224.1:c.*66T>A	ENSP00000440465.1:n.*66T>A
NM_002180.2:c.743T>A , LRG_250t1:c.743T>A	NP_002171.2:p.Val248Glu
XM_005273974.2:c.-269T>A	XP_005274031.1:n.-269T>A
XM_005273976.1:c.743T>A	XP_005274033.1:p.Val248Glu
XR_247198.1:n.845T>A
XR_949903.1:n.845T>A
XM_005273976.2:c.743T>A	XP_005274033.1:p.Val248Glu
XM_017017669.2:c.-269T>A	XP_016873158.1:n.-269T>A
XM_017017670.2:c.-269T>A	XP_016873159.1:n.-269T>A
XM_017017671.2:c.743T>A	XP_016873160.1:p.Val248Glu
XR_949903.3:n.841T>A
NM_002180.3:c.743T>A MANE Select	NP_002171.2:p.Val248Glu