Canonical Allele Identifier: CA475192379

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2925115
• ClinVar RCV Id: RCV003780769
• dbSNP Id: rs1202016348
• gnomAD v2: 11-68682338-G-A
• gnomAD v4: 11-68914870-G-A
• MyVariant Identifiers: chr11:g.68682338G>A (hg19) ; chr11:g.68914870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914870G>A , CM000673.2:g.68914870G>A	GRCh38
NC_000011.9:g.68682338G>A , CM000673.1:g.68682338G>A	GRCh37
NC_000011.8:g.68438914G>A	NCBI36
NG_007976.1:g.16020G>A , LRG_250:g.16020G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.759G>A MANE Select	ENSP00000255078.4:p.Glu253=
ENST00000539224.2:c.888G>A
ENST00000674955.1:c.759G>A	ENSP00000502463.1:p.Glu253=
ENST00000675118.1:c.106G>A
ENST00000675119.1:c.48G>A	ENSP00000501861.1:p.Glu16=
ENST00000675305.1:c.48G>A	ENSP00000502365.1:p.Glu16=
ENST00000675464.1:c.48G>A	ENSP00000502650.1:p.Glu16=
ENST00000675615.1:c.759G>A	ENSP00000502413.1:p.Glu253=
ENST00000675683.1:c.146G>A
ENST00000676173.1:n.803G>A
ENST00000676228.1:c.*82G>A	ENSP00000502375.1:n.*82G>A
ENST00000676239.1:n.73G>A
ENST00000255078.7:c.759G>A	ENSP00000255078.3:p.Glu253=
ENST00000539224.1:c.*82G>A	ENSP00000440465.1:n.*82G>A
NM_002180.2:c.759G>A , LRG_250t1:c.759G>A	NP_002171.2:p.Glu253=
XM_005273974.2:c.-253G>A	XP_005274031.1:n.-253G>A
XM_005273976.1:c.759G>A	XP_005274033.1:p.Glu253=
XR_247198.1:n.861G>A
XR_949903.1:n.861G>A
XM_005273976.2:c.759G>A	XP_005274033.1:p.Glu253=
XM_017017669.2:c.-253G>A	XP_016873158.1:n.-253G>A
XM_017017670.2:c.-253G>A	XP_016873159.1:n.-253G>A
XM_017017671.2:c.759G>A	XP_016873160.1:p.Glu253=
XR_949903.3:n.857G>A
NM_002180.3:c.759G>A MANE Select	NP_002171.2:p.Glu253=