Canonical Allele Identifier: CA381649672

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701277T>A (hg19) ; chr11:g.68933809T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933809T>A , CM000673.2:g.68933809T>A	GRCh38
NC_000011.9:g.68701277T>A , CM000673.1:g.68701277T>A	GRCh37
NC_000011.8:g.68457853T>A	NCBI36
NG_007976.1:g.34959T>A , LRG_250:g.34959T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1433T>A MANE Select	ENSP00000255078.4:p.Val478Glu
ENST00000674955.1:c.*150T>A	ENSP00000502463.1:n.*150T>A
ENST00000675118.1:c.921T>A
ENST00000675205.1:n.183+328T>A
ENST00000675615.1:c.1433T>A	ENSP00000502413.1:p.Val478Glu
ENST00000675648.1:n.808T>A
ENST00000675997.1:n.113-655T>A
ENST00000676173.1:n.2178T>A
ENST00000676228.1:c.*756T>A	ENSP00000502375.1:n.*756T>A
ENST00000255078.7:c.1433T>A	ENSP00000255078.3:p.Val478Glu
ENST00000537458.5:n.550T>A
ENST00000539064.5:n.1192T>A
ENST00000541229.5:n.128T>A
ENST00000543739.5:n.550T>A
NM_002180.2:c.1433T>A , LRG_250t1:c.1433T>A	NP_002171.2:p.Val478Glu
XM_005273974.2:c.422T>A	XP_005274031.1:p.Val141Glu
XM_005273975.2:c.305T>A	XP_005274032.1:p.Val102Glu
XM_011544994.1:c.200T>A	XP_011543296.1:p.Val67Glu
XR_949903.1:n.1535T>A
XM_005273975.3:c.305T>A	XP_005274032.1:p.Val102Glu
XM_017017669.2:c.422T>A	XP_016873158.1:p.Val141Glu
XM_017017670.2:c.422T>A	XP_016873159.1:p.Val141Glu
XM_017017671.2:c.1433T>A	XP_016873160.1:p.Val478Glu
XR_949903.3:n.1531T>A
NM_002180.3:c.1433T>A MANE Select	NP_002171.2:p.Val478Glu