Canonical Allele Identifier: CA599991827

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1372335
• ClinVar RCV Id: RCV001872908
• dbSNP Id: rs1164525405
• gnomAD v2: 11-68701398-A-G
• gnomAD v4: 11-68933930-A-G
• MyVariant Identifiers: chr11:g.68701398A>G (hg19) ; chr11:g.68933930A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933930A>G , CM000673.2:g.68933930A>G	GRCh38
NC_000011.9:g.68701398A>G , CM000673.1:g.68701398A>G	GRCh37
NC_000011.8:g.68457974A>G	NCBI36
NG_007976.1:g.35080A>G , LRG_250:g.35080A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1537+17A>G MANE Select	ENSP00000255078.4:n.1537+17A>G
ENST00000674955.1:c.*254+17A>G	ENSP00000502463.1:n.*254+17A>G
ENST00000675118.1:c.1025+17A>G
ENST00000675205.1:n.183+449A>G
ENST00000675615.1:c.1537+17A>G	ENSP00000502413.1:n.1537+17A>G
ENST00000675648.1:n.912+17A>G
ENST00000675997.1:n.113-534A>G
ENST00000676173.1:n.2282+17A>G
ENST00000676228.1:c.*860+17A>G	ENSP00000502375.1:n.*860+17A>G
ENST00000255078.7:c.1537+17A>G	ENSP00000255078.3:n.1537+17A>G
ENST00000537458.5:n.671A>G
ENST00000539064.5:n.1296+17A>G
ENST00000541229.5:n.232+17A>G
ENST00000543739.5:n.654+17A>G
NM_002180.2:c.1537+17A>G , LRG_250t1:c.1537+17A>G	NP_002171.2:n.1537+17A>G
XM_005273974.2:c.526+17A>G	XP_005274031.1:n.526+17A>G
XM_005273975.2:c.409+17A>G	XP_005274032.1:n.409+17A>G
XM_011544994.1:c.304+17A>G	XP_011543296.1:n.304+17A>G
XR_949903.1:n.1639+17A>G
XM_005273975.3:c.409+17A>G	XP_005274032.1:n.409+17A>G
XM_017017669.2:c.526+17A>G	XP_016873158.1:n.526+17A>G
XM_017017670.2:c.526+17A>G	XP_016873159.1:n.526+17A>G
XM_017017671.2:c.1537+17A>G	XP_016873160.1:n.1537+17A>G
XR_949903.3:n.1635+17A>G
NM_002180.3:c.1537+17A>G MANE Select	NP_002171.2:n.1537+17A>G