Canonical Allele Identifier: CA13505259

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1215557
• ClinVar RCV Id: RCV001585439
• dbSNP Id: rs77371136
• gnomAD v2: 11-68701541-C-T
• gnomAD v3: 11-68934073-C-T
• gnomAD v4: 11-68934073-C-T
• MyVariant Identifiers: chr11:g.68701541C>T (hg19) ; chr11:g.68934073C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68934073C>T , CM000673.2:g.68934073C>T	GRCh38
NC_000011.9:g.68701541C>T , CM000673.1:g.68701541C>T	GRCh37
NC_000011.8:g.68458117C>T	NCBI36
NG_007976.1:g.35223C>T , LRG_250:g.35223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1537+160C>T MANE Select	ENSP00000255078.4:n.1537+160C>T
ENST00000674955.1:c.*254+160C>T	ENSP00000502463.1:n.*254+160C>T
ENST00000675118.1:c.1025+160C>T
ENST00000675205.1:n.184-391C>T
ENST00000675615.1:c.1537+160C>T	ENSP00000502413.1:n.1537+160C>T
ENST00000675648.1:n.912+160C>T
ENST00000675997.1:n.113-391C>T
ENST00000676173.1:n.2282+160C>T
ENST00000676228.1:c.*860+160C>T	ENSP00000502375.1:n.*860+160C>T
ENST00000255078.7:c.1537+160C>T	ENSP00000255078.3:n.1537+160C>T
ENST00000539064.5:n.1296+160C>T
ENST00000541229.5:n.232+160C>T
ENST00000543739.5:n.654+160C>T
NM_002180.2:c.1537+160C>T , LRG_250t1:c.1537+160C>T	NP_002171.2:n.1537+160C>T
XM_005273974.2:c.526+160C>T	XP_005274031.1:n.526+160C>T
XM_005273975.2:c.409+160C>T	XP_005274032.1:n.409+160C>T
XM_011544994.1:c.304+160C>T	XP_011543296.1:n.304+160C>T
XR_949903.1:n.1639+160C>T
XM_005273975.3:c.409+160C>T	XP_005274032.1:n.409+160C>T
XM_017017669.2:c.526+160C>T	XP_016873158.1:n.526+160C>T
XM_017017670.2:c.526+160C>T	XP_016873159.1:n.526+160C>T
XM_017017671.2:c.1537+160C>T	XP_016873160.1:n.1537+160C>T
XR_949903.3:n.1635+160C>T
NM_002180.3:c.1537+160C>T MANE Select	NP_002171.2:n.1537+160C>T