Canonical Allele Identifier: CA6153852

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1353379
• ClinVar RCV Id: RCV001863388
• dbSNP Id: rs536678728
• ExAC: 11:68704131 A / T
• gnomAD v2: 11-68704131-A-T
• gnomAD v3: 11-68936663-A-T
• gnomAD v4: 11-68936663-A-T
• MyVariant Identifiers: chr11:g.68704131A>T (hg19) ; chr11:g.68936663A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936663A>T , CM000673.2:g.68936663A>T	GRCh38
NC_000011.9:g.68704131A>T , CM000673.1:g.68704131A>T	GRCh37
NC_000011.8:g.68460707A>T	NCBI36
NG_007976.1:g.37813A>T , LRG_250:g.37813A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2183A>T MANE Select	ENSP00000255078.4:p.His728Leu
ENST00000674675.1:c.427A>T
ENST00000674878.1:c.427A>T
ENST00000674955.1:c.*900A>T	ENSP00000502463.1:n.*900A>T
ENST00000675118.1:c.1671A>T
ENST00000675389.1:n.458A>T
ENST00000675615.1:c.2183A>T	ENSP00000502413.1:p.His728Leu
ENST00000675648.1:n.1558A>T
ENST00000675916.1:c.427A>T
ENST00000676173.1:n.2928A>T
ENST00000676182.1:c.614A>T
ENST00000676228.1:c.*1506A>T	ENSP00000502375.1:n.*1506A>T
ENST00000255078.7:c.2183A>T	ENSP00000255078.3:p.His728Leu
ENST00000539064.5:n.1942A>T
ENST00000543739.5:n.1176A>T
NM_002180.2:c.2183A>T , LRG_250t1:c.2183A>T	NP_002171.2:p.His728Leu
XM_005273974.2:c.1172A>T	XP_005274031.1:p.His391Leu
XM_005273975.2:c.1055A>T	XP_005274032.1:p.His352Leu
XM_011544994.1:c.950A>T	XP_011543296.1:p.His317Leu
XR_949903.1:n.2285A>T
XM_005273975.3:c.1055A>T	XP_005274032.1:p.His352Leu
XM_017017669.2:c.1172A>T	XP_016873158.1:p.His391Leu
XM_017017670.2:c.1172A>T	XP_016873159.1:p.His391Leu
XR_949903.3:n.2281A>T
NM_002180.3:c.2183A>T MANE Select	NP_002171.2:p.His728Leu