Canonical Allele Identifier: CA381647490

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 433161
• ClinVar RCV Id: RCV000498252 ; RCV000856968 ; RCV001244708
• dbSNP Id: rs1193634362
• gnomAD v3: 11-68929243-T-C
• gnomAD v4: 11-68929243-T-C
• MyVariant Identifiers: chr11:g.68696711T>C (hg19) ; chr11:g.68929243T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68929243T>C , CM000673.2:g.68929243T>C	GRCh38
NC_000011.9:g.68696711T>C , CM000673.1:g.68696711T>C	GRCh37
NC_000011.8:g.68453287T>C	NCBI36
NG_007976.1:g.30393T>C , LRG_250:g.30393T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1121T>C MANE Select	ENSP00000255078.4:p.Ile374Thr
ENST00000674698.1:n.61T>C
ENST00000674745.1:c.286T>C	ENSP00000502738.1:n.286T>C
ENST00000674775.1:n.321T>C
ENST00000674955.1:c.1121T>C	ENSP00000502463.1:p.Ile374Thr
ENST00000675118.1:c.609T>C
ENST00000675305.1:c.441T>C	ENSP00000502365.1:n.441T>C
ENST00000675310.1:n.61T>C
ENST00000675493.1:n.282T>C
ENST00000675615.1:c.1121T>C	ENSP00000502413.1:p.Ile374Thr
ENST00000675648.1:n.496T>C
ENST00000675684.1:c.248T>C	ENSP00000502192.1:p.Ile83Thr
ENST00000675755.1:n.61T>C
ENST00000676083.1:n.61T>C
ENST00000676173.1:n.1165T>C
ENST00000676228.1:c.*444T>C	ENSP00000502375.1:n.*444T>C
ENST00000676240.1:n.61T>C
ENST00000676400.1:n.61T>C
ENST00000255078.7:c.1121T>C	ENSP00000255078.3:p.Ile374Thr
ENST00000568742.1:n.231T>C
NM_002180.2:c.1121T>C , LRG_250t1:c.1121T>C	NP_002171.2:p.Ile374Thr
XM_005273974.2:c.110T>C	XP_005274031.1:p.Ile37Thr
XM_005273976.1:c.1121T>C	XP_005274033.1:p.Ile374Thr
XR_247198.1:n.1223T>C
XR_949903.1:n.1223T>C
XM_005273976.2:c.1121T>C	XP_005274033.1:p.Ile374Thr
XM_017017669.2:c.110T>C	XP_016873158.1:p.Ile37Thr
XM_017017670.2:c.110T>C	XP_016873159.1:p.Ile37Thr
XM_017017671.2:c.1121T>C	XP_016873160.1:p.Ile374Thr
XR_949903.3:n.1219T>C
NM_002180.3:c.1121T>C MANE Select	NP_002171.2:p.Ile374Thr