Canonical Allele Identifier: CA381651499

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2337129
• ClinVar RCV Id: RCV002959583
• gnomAD v4: 11-68936251-C-T
• MyVariant Identifiers: chr11:g.68703719C>T (hg19) ; chr11:g.68936251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936251C>T , CM000673.2:g.68936251C>T	GRCh38
NC_000011.9:g.68703719C>T , CM000673.1:g.68703719C>T	GRCh37
NC_000011.8:g.68460295C>T	NCBI36
NG_007976.1:g.37401C>T , LRG_250:g.37401C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1771C>T MANE Select	ENSP00000255078.4:p.Leu591Phe
ENST00000674675.1:c.15C>T
ENST00000674878.1:c.15C>T
ENST00000674955.1:c.*488C>T	ENSP00000502463.1:n.*488C>T
ENST00000675118.1:c.1259C>T
ENST00000675389.1:n.46C>T
ENST00000675615.1:c.1771C>T	ENSP00000502413.1:p.Leu591Phe
ENST00000675648.1:n.1146C>T
ENST00000675916.1:c.15C>T
ENST00000676173.1:n.2516C>T
ENST00000676182.1:c.202C>T
ENST00000676228.1:c.*1094C>T	ENSP00000502375.1:n.*1094C>T
ENST00000255078.7:c.1771C>T	ENSP00000255078.3:p.Leu591Phe
ENST00000539064.5:n.1530C>T
ENST00000541229.5:n.466C>T
ENST00000543739.5:n.764C>T
ENST00000545475.1:n.367C>T
NM_002180.2:c.1771C>T , LRG_250t1:c.1771C>T	NP_002171.2:p.Leu591Phe
XM_005273974.2:c.760C>T	XP_005274031.1:p.Leu254Phe
XM_005273975.2:c.643C>T	XP_005274032.1:p.Leu215Phe
XM_011544994.1:c.538C>T	XP_011543296.1:p.Leu180Phe
XR_949903.1:n.1873C>T
XM_005273975.3:c.643C>T	XP_005274032.1:p.Leu215Phe
XM_017017669.2:c.760C>T	XP_016873158.1:p.Leu254Phe
XM_017017670.2:c.760C>T	XP_016873159.1:p.Leu254Phe
XR_949903.3:n.1869C>T
NM_002180.3:c.1771C>T MANE Select	NP_002171.2:p.Leu591Phe