Canonical Allele Identifier: CA381649871

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1308901
• ClinVar RCV Id: RCV001754789
• dbSNP Id: rs1365833591
• MyVariant Identifiers: chr11:g.68701309C>T (hg19) ; chr11:g.68933841C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1465C>T MANE Select	ENSP00000255078.4:p.Leu489Phe
ENST00000674955.1:c.*182C>T	ENSP00000502463.1:n.*182C>T
ENST00000675118.1:c.953C>T
ENST00000675205.1:n.183+360C>T
ENST00000675615.1:c.1465C>T	ENSP00000502413.1:p.Leu489Phe
ENST00000675648.1:n.840C>T
ENST00000675997.1:n.113-623C>T
ENST00000676173.1:n.2210C>T
ENST00000676228.1:c.*788C>T	ENSP00000502375.1:n.*788C>T
ENST00000255078.7:c.1465C>T	ENSP00000255078.3:p.Leu489Phe
ENST00000537458.5:n.582C>T
ENST00000539064.5:n.1224C>T
ENST00000541229.5:n.160C>T
ENST00000543739.5:n.582C>T
NM_002180.2:c.1465C>T , LRG_250t1:c.1465C>T	NP_002171.2:p.Leu489Phe
XM_005273974.2:c.454C>T	XP_005274031.1:p.Leu152Phe
XM_005273975.2:c.337C>T	XP_005274032.1:p.Leu113Phe
XM_011544994.1:c.232C>T	XP_011543296.1:p.Leu78Phe
XR_949903.1:n.1567C>T
XM_005273975.3:c.337C>T	XP_005274032.1:p.Leu113Phe
XM_017017669.2:c.454C>T	XP_016873158.1:p.Leu152Phe
XM_017017670.2:c.454C>T	XP_016873159.1:p.Leu152Phe
XM_017017671.2:c.1465C>T	XP_016873160.1:p.Leu489Phe
XR_949903.3:n.1563C>T
NM_002180.3:c.1465C>T MANE Select	NP_002171.2:p.Leu489Phe