Canonical Allele Identifier: CA381649868

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701309C>A (hg19) ; chr11:g.68933841C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933841C>A , CM000673.2:g.68933841C>A	GRCh38
NC_000011.9:g.68701309C>A , CM000673.1:g.68701309C>A	GRCh37
NC_000011.8:g.68457885C>A	NCBI36
NG_007976.1:g.34991C>A , LRG_250:g.34991C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1465C>A MANE Select	ENSP00000255078.4:p.Leu489Ile
ENST00000674955.1:c.*182C>A	ENSP00000502463.1:n.*182C>A
ENST00000675118.1:c.953C>A
ENST00000675205.1:n.183+360C>A
ENST00000675615.1:c.1465C>A	ENSP00000502413.1:p.Leu489Ile
ENST00000675648.1:n.840C>A
ENST00000675997.1:n.113-623C>A
ENST00000676173.1:n.2210C>A
ENST00000676228.1:c.*788C>A	ENSP00000502375.1:n.*788C>A
ENST00000255078.7:c.1465C>A	ENSP00000255078.3:p.Leu489Ile
ENST00000537458.5:n.582C>A
ENST00000539064.5:n.1224C>A
ENST00000541229.5:n.160C>A
ENST00000543739.5:n.582C>A
NM_002180.2:c.1465C>A , LRG_250t1:c.1465C>A	NP_002171.2:p.Leu489Ile
XM_005273974.2:c.454C>A	XP_005274031.1:p.Leu152Ile
XM_005273975.2:c.337C>A	XP_005274032.1:p.Leu113Ile
XM_011544994.1:c.232C>A	XP_011543296.1:p.Leu78Ile
XR_949903.1:n.1567C>A
XM_005273975.3:c.337C>A	XP_005274032.1:p.Leu113Ile
XM_017017669.2:c.454C>A	XP_016873158.1:p.Leu152Ile
XM_017017670.2:c.454C>A	XP_016873159.1:p.Leu152Ile
XM_017017671.2:c.1465C>A	XP_016873160.1:p.Leu489Ile
XR_949903.3:n.1563C>A
NM_002180.3:c.1465C>A MANE Select	NP_002171.2:p.Leu489Ile