Canonical Allele Identifier: CA381650090

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701337T>A (hg19) ; chr11:g.68933869T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933869T>A , CM000673.2:g.68933869T>A	GRCh38
NC_000011.9:g.68701337T>A , CM000673.1:g.68701337T>A	GRCh37
NC_000011.8:g.68457913T>A	NCBI36
NG_007976.1:g.35019T>A , LRG_250:g.35019T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1493T>A MANE Select	ENSP00000255078.4:p.Leu498Gln
ENST00000674955.1:c.*210T>A	ENSP00000502463.1:n.*210T>A
ENST00000675118.1:c.981T>A
ENST00000675205.1:n.183+388T>A
ENST00000675615.1:c.1493T>A	ENSP00000502413.1:p.Leu498Gln
ENST00000675648.1:n.868T>A
ENST00000675997.1:n.113-595T>A
ENST00000676173.1:n.2238T>A
ENST00000676228.1:c.*816T>A	ENSP00000502375.1:n.*816T>A
ENST00000255078.7:c.1493T>A	ENSP00000255078.3:p.Leu498Gln
ENST00000537458.5:n.610T>A
ENST00000539064.5:n.1252T>A
ENST00000541229.5:n.188T>A
ENST00000543739.5:n.610T>A
NM_002180.2:c.1493T>A , LRG_250t1:c.1493T>A	NP_002171.2:p.Leu498Gln
XM_005273974.2:c.482T>A	XP_005274031.1:p.Leu161Gln
XM_005273975.2:c.365T>A	XP_005274032.1:p.Leu122Gln
XM_011544994.1:c.260T>A	XP_011543296.1:p.Leu87Gln
XR_949903.1:n.1595T>A
XM_005273975.3:c.365T>A	XP_005274032.1:p.Leu122Gln
XM_017017669.2:c.482T>A	XP_016873158.1:p.Leu161Gln
XM_017017670.2:c.482T>A	XP_016873159.1:p.Leu161Gln
XM_017017671.2:c.1493T>A	XP_016873160.1:p.Leu498Gln
XR_949903.3:n.1591T>A
NM_002180.3:c.1493T>A MANE Select	NP_002171.2:p.Leu498Gln