Canonical Allele Identifier: CA249155

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 218603
• ClinVar RCV Id: RCV000202957 ; RCV000330776 ; RCV000528045 ; RCV000767054 ; RCV001173346 ; RCV001336447 ; RCV002399756
• dbSNP Id: rs148095551
• ExAC: 11:68682346 C / G
• gnomAD v2: 11-68682346-C-G
• gnomAD v3: 11-68914878-C-G
• gnomAD v4: 11-68914878-C-G
• MyVariant Identifiers: chr11:g.68682346C>G (hg19) ; chr11:g.68914878C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914878C>G , CM000673.2:g.68914878C>G	GRCh38
NC_000011.9:g.68682346C>G , CM000673.1:g.68682346C>G	GRCh37
NC_000011.8:g.68438922C>G	NCBI36
NG_007976.1:g.16028C>G , LRG_250:g.16028C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.767C>G MANE Select	ENSP00000255078.4:p.Ala256Gly
ENST00000539224.2:c.896C>G
ENST00000674955.1:c.767C>G	ENSP00000502463.1:p.Ala256Gly
ENST00000675118.1:c.114C>G
ENST00000675119.1:c.56C>G	ENSP00000501861.1:p.Ala19Gly
ENST00000675305.1:c.56C>G	ENSP00000502365.1:p.Ala19Gly
ENST00000675464.1:c.56C>G	ENSP00000502650.1:p.Ala19Gly
ENST00000675615.1:c.767C>G	ENSP00000502413.1:p.Ala256Gly
ENST00000675683.1:c.154C>G
ENST00000676173.1:n.811C>G
ENST00000676228.1:c.*90C>G	ENSP00000502375.1:n.*90C>G
ENST00000676239.1:n.81C>G
ENST00000255078.7:c.767C>G	ENSP00000255078.3:p.Ala256Gly
ENST00000539224.1:c.*90C>G	ENSP00000440465.1:n.*90C>G
NM_002180.2:c.767C>G , LRG_250t1:c.767C>G	NP_002171.2:p.Ala256Gly
XM_005273974.2:c.-245C>G	XP_005274031.1:n.-245C>G
XM_005273976.1:c.767C>G	XP_005274033.1:p.Ala256Gly
XR_247198.1:n.869C>G
XR_949903.1:n.869C>G
XM_005273976.2:c.767C>G	XP_005274033.1:p.Ala256Gly
XM_017017669.2:c.-245C>G	XP_016873158.1:n.-245C>G
XM_017017670.2:c.-245C>G	XP_016873159.1:n.-245C>G
XM_017017671.2:c.767C>G	XP_016873160.1:p.Ala256Gly
XR_949903.3:n.865C>G
NM_002180.3:c.767C>G MANE Select	NP_002171.2:p.Ala256Gly