Canonical Allele Identifier: CA13420592

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 681885
• ClinVar RCV Id: RCV000841858
• dbSNP Id: rs751879
• gnomAD v2: 11-68701579-T-C
• gnomAD v3: 11-68934111-T-C
• gnomAD v4: 11-68934111-T-C
• MyVariant Identifiers: chr11:g.68701579T>C (hg19) ; chr11:g.68934111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68934111T>C , CM000673.2:g.68934111T>C	GRCh38
NC_000011.9:g.68701579T>C , CM000673.1:g.68701579T>C	GRCh37
NC_000011.8:g.68458155T>C	NCBI36
NG_007976.1:g.35261T>C , LRG_250:g.35261T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1537+198T>C MANE Select	ENSP00000255078.4:n.1537+198T>C
ENST00000674955.1:c.*254+198T>C	ENSP00000502463.1:n.*254+198T>C
ENST00000675118.1:c.1025+198T>C
ENST00000675205.1:n.184-353T>C
ENST00000675615.1:c.1537+198T>C	ENSP00000502413.1:n.1537+198T>C
ENST00000675648.1:n.912+198T>C
ENST00000675997.1:n.113-353T>C
ENST00000676173.1:n.2282+198T>C
ENST00000676228.1:c.*860+198T>C	ENSP00000502375.1:n.*860+198T>C
ENST00000255078.7:c.1537+198T>C	ENSP00000255078.3:n.1537+198T>C
ENST00000539064.5:n.1296+198T>C
ENST00000541229.5:n.232+198T>C
ENST00000543739.5:n.654+198T>C
NM_002180.2:c.1537+198T>C , LRG_250t1:c.1537+198T>C	NP_002171.2:n.1537+198T>C
XM_005273974.2:c.526+198T>C	XP_005274031.1:n.526+198T>C
XM_005273975.2:c.409+198T>C	XP_005274032.1:n.409+198T>C
XM_011544994.1:c.304+198T>C	XP_011543296.1:n.304+198T>C
XR_949903.1:n.1639+198T>C
XM_005273975.3:c.409+198T>C	XP_005274032.1:n.409+198T>C
XM_017017669.2:c.526+198T>C	XP_016873158.1:n.526+198T>C
XM_017017670.2:c.526+198T>C	XP_016873159.1:n.526+198T>C
XM_017017671.2:c.1537+198T>C	XP_016873160.1:n.1537+198T>C
XR_949903.3:n.1635+198T>C
NM_002180.3:c.1537+198T>C MANE Select	NP_002171.2:n.1537+198T>C