Canonical Allele Identifier: CA381650093

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1697207
• ClinVar RCV Id: RCV002267553
• dbSNP Id: rs2154008654
• MyVariant Identifiers: chr11:g.68701337T>C (hg19) ; chr11:g.68933869T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1493T>C MANE Select	ENSP00000255078.4:p.Leu498Pro
ENST00000674955.1:c.*210T>C	ENSP00000502463.1:n.*210T>C
ENST00000675118.1:c.981T>C
ENST00000675205.1:n.183+388T>C
ENST00000675615.1:c.1493T>C	ENSP00000502413.1:p.Leu498Pro
ENST00000675648.1:n.868T>C
ENST00000675997.1:n.113-595T>C
ENST00000676173.1:n.2238T>C
ENST00000676228.1:c.*816T>C	ENSP00000502375.1:n.*816T>C
ENST00000255078.7:c.1493T>C	ENSP00000255078.3:p.Leu498Pro
ENST00000537458.5:n.610T>C
ENST00000539064.5:n.1252T>C
ENST00000541229.5:n.188T>C
ENST00000543739.5:n.610T>C
NM_002180.2:c.1493T>C , LRG_250t1:c.1493T>C	NP_002171.2:p.Leu498Pro
XM_005273974.2:c.482T>C	XP_005274031.1:p.Leu161Pro
XM_005273975.2:c.365T>C	XP_005274032.1:p.Leu122Pro
XM_011544994.1:c.260T>C	XP_011543296.1:p.Leu87Pro
XR_949903.1:n.1595T>C
XM_005273975.3:c.365T>C	XP_005274032.1:p.Leu122Pro
XM_017017669.2:c.482T>C	XP_016873158.1:p.Leu161Pro
XM_017017670.2:c.482T>C	XP_016873159.1:p.Leu161Pro
XM_017017671.2:c.1493T>C	XP_016873160.1:p.Leu498Pro
XR_949903.3:n.1591T>C
NM_002180.3:c.1493T>C MANE Select	NP_002171.2:p.Leu498Pro