Canonical Allele Identifier: CA381642994

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 580622
• ClinVar RCV Id: RCV000704215
• dbSNP Id: rs1566424655
• MyVariant Identifiers: chr11:g.68675611A>G (hg19) ; chr11:g.68908143A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908143A>G , CM000673.2:g.68908143A>G	GRCh38
NC_000011.9:g.68675611A>G , CM000673.1:g.68675611A>G	GRCh37
NC_000011.8:g.68432187A>G	NCBI36
NG_007976.1:g.9293A>G , LRG_250:g.9293A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.257-2A>G MANE Select	ENSP00000255078.4:n.257-2A>G
ENST00000539224.2:c.220-2A>G
ENST00000674583.1:c.220-2A>G
ENST00000674597.1:c.68-2A>G
ENST00000674955.1:c.257-2A>G	ENSP00000502463.1:n.257-2A>G
ENST00000675142.1:n.220-2A>G
ENST00000675469.1:c.133-2A>G
ENST00000675615.1:c.257-2A>G	ENSP00000502413.1:n.257-2A>G
ENST00000675674.1:n.220-2A>G
ENST00000675873.1:c.220-2A>G
ENST00000676173.1:n.301-2A>G
ENST00000676228.1:c.257-2A>G	ENSP00000502375.1:n.257-2A>G
ENST00000255078.7:c.257-2A>G	ENSP00000255078.3:n.257-2A>G
ENST00000539224.1:c.257-2A>G	ENSP00000440465.1:n.257-2A>G
ENST00000544541.1:c.87-2A>G	ENSP00000443343.1:n.87-2A>G
ENST00000545146.1:c.*127-2A>G	ENSP00000456366.1:n.*127-2A>G
NM_002180.2:c.257-2A>G , LRG_250t1:c.257-2A>G	NP_002171.2:n.257-2A>G
XM_005273974.2:c.-755-2A>G	XP_005274031.1:n.-755-2A>G
XM_005273976.1:c.257-2A>G	XP_005274033.1:n.257-2A>G
XR_247198.1:n.359-2A>G
XR_949903.1:n.359-2A>G
XM_005273976.2:c.257-2A>G	XP_005274033.1:n.257-2A>G
XM_017017669.2:c.-657-2A>G	XP_016873158.1:n.-657-2A>G
XM_017017671.2:c.257-2A>G	XP_016873160.1:n.257-2A>G
XR_949903.3:n.355-2A>G
NM_002180.3:c.257-2A>G MANE Select	NP_002171.2:n.257-2A>G