Canonical Allele Identifier: CA10575803

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 217448
• ClinVar RCV Id: RCV000240656 ; RCV000624850 ; RCV000810966
• dbSNP Id: rs886037759
• gnomAD v4: 11-68903954-T-C
• MyVariant Identifiers: chr11:g.68671422T>C (hg19) ; chr11:g.68903954T>C (hg38)
• PubMed: PMID:1461881 ; PMID:14506069 ; PMID:14681881 ; PMID:19158098 ; PMID:24922459 ; PMID:25439726 ; PMID:25568292 ; PMID:26298607 ; PMID:27450922

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68903954T>C , CM000673.2:g.68903954T>C	GRCh38
NC_000011.9:g.68671422T>C , CM000673.1:g.68671422T>C	GRCh37
NC_000011.8:g.68427998T>C	NCBI36
NG_007976.1:g.5104T>C , LRG_250:g.5104T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2T>C MANE Select	ENSP00000255078.4:p.Met1Thr
ENST00000674955.1:c.2T>C	ENSP00000502463.1:p.Met1Thr
ENST00000675615.1:c.2T>C	ENSP00000502413.1:p.Met1Thr
ENST00000676173.1:n.42T>C
ENST00000676228.1:c.2T>C	ENSP00000502375.1:p.Met1Thr
ENST00000255078.7:c.2T>C	ENSP00000255078.3:p.Met1Thr
ENST00000539224.1:c.2T>C	ENSP00000440465.1:p.Met1Thr
ENST00000544541.1:c.2T>C	ENSP00000443343.1:p.Met1Thr
ENST00000545146.1:c.2T>C	ENSP00000456366.1:p.Met1Thr
NM_002180.2:c.2T>C , LRG_250t1:c.2T>C	NP_002171.2:p.Met1Thr
XM_005273974.2:c.-1014T>C	XP_005274031.1:n.-1014T>C
XM_005273976.1:c.2T>C	XP_005274033.1:p.Met1Thr
XR_247198.1:n.104T>C
XR_949903.1:n.104T>C
XM_005273976.2:c.2T>C	XP_005274033.1:p.Met1Thr
XM_017017669.2:c.-912T>C	XP_016873158.1:n.-912T>C
XM_017017671.2:c.2T>C	XP_016873160.1:p.Met1Thr
XR_949903.3:n.100T>C
NM_002180.3:c.2T>C MANE Select	NP_002171.2:p.Met1Thr