Canonical Allele Identifier: CA223392259

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 534924
• ClinVar RCV Id: RCV000642624 ; RCV002388088
• dbSNP Id: rs1033094612
• gnomAD v2: 11-68682339-C-T
• gnomAD v3: 11-68914871-C-T
• gnomAD v4: 11-68914871-C-T
• MyVariant Identifiers: chr11:g.68682339C>T (hg19) ; chr11:g.68914871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914871C>T , CM000673.2:g.68914871C>T	GRCh38
NC_000011.9:g.68682339C>T , CM000673.1:g.68682339C>T	GRCh37
NC_000011.8:g.68438915C>T	NCBI36
NG_007976.1:g.16021C>T , LRG_250:g.16021C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.760C>T MANE Select	ENSP00000255078.4:p.Arg254Cys
ENST00000539224.2:c.889C>T
ENST00000674955.1:c.760C>T	ENSP00000502463.1:p.Arg254Cys
ENST00000675118.1:c.107C>T
ENST00000675119.1:c.49C>T	ENSP00000501861.1:p.Arg17Cys
ENST00000675305.1:c.49C>T	ENSP00000502365.1:p.Arg17Cys
ENST00000675464.1:c.49C>T	ENSP00000502650.1:p.Arg17Cys
ENST00000675615.1:c.760C>T	ENSP00000502413.1:p.Arg254Cys
ENST00000675683.1:c.147C>T
ENST00000676173.1:n.804C>T
ENST00000676228.1:c.*83C>T	ENSP00000502375.1:n.*83C>T
ENST00000676239.1:n.74C>T
ENST00000255078.7:c.760C>T	ENSP00000255078.3:p.Arg254Cys
ENST00000539224.1:c.*83C>T	ENSP00000440465.1:n.*83C>T
NM_002180.2:c.760C>T , LRG_250t1:c.760C>T	NP_002171.2:p.Arg254Cys
XM_005273974.2:c.-252C>T	XP_005274031.1:n.-252C>T
XM_005273976.1:c.760C>T	XP_005274033.1:p.Arg254Cys
XR_247198.1:n.862C>T
XR_949903.1:n.862C>T
XM_005273976.2:c.760C>T	XP_005274033.1:p.Arg254Cys
XM_017017669.2:c.-252C>T	XP_016873158.1:n.-252C>T
XM_017017670.2:c.-252C>T	XP_016873159.1:n.-252C>T
XM_017017671.2:c.760C>T	XP_016873160.1:p.Arg254Cys
XR_949903.3:n.858C>T
NM_002180.3:c.760C>T MANE Select	NP_002171.2:p.Arg254Cys