Canonical Allele Identifier: CA381650168

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1324955542
• gnomAD v2: 11-68701349-A-G
• gnomAD v3: 11-68933881-A-G
• gnomAD v4: 11-68933881-A-G
• MyVariant Identifiers: chr11:g.68701349A>G (hg19) ; chr11:g.68933881A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933881A>G , CM000673.2:g.68933881A>G	GRCh38
NC_000011.9:g.68701349A>G , CM000673.1:g.68701349A>G	GRCh37
NC_000011.8:g.68457925A>G	NCBI36
NG_007976.1:g.35031A>G , LRG_250:g.35031A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1505A>G MANE Select	ENSP00000255078.4:p.Glu502Gly
ENST00000674955.1:c.*222A>G	ENSP00000502463.1:n.*222A>G
ENST00000675118.1:c.993A>G
ENST00000675205.1:n.183+400A>G
ENST00000675615.1:c.1505A>G	ENSP00000502413.1:p.Glu502Gly
ENST00000675648.1:n.880A>G
ENST00000675997.1:n.113-583A>G
ENST00000676173.1:n.2250A>G
ENST00000676228.1:c.*828A>G	ENSP00000502375.1:n.*828A>G
ENST00000255078.7:c.1505A>G	ENSP00000255078.3:p.Glu502Gly
ENST00000537458.5:n.622A>G
ENST00000539064.5:n.1264A>G
ENST00000541229.5:n.200A>G
ENST00000543739.5:n.622A>G
NM_002180.2:c.1505A>G , LRG_250t1:c.1505A>G	NP_002171.2:p.Glu502Gly
XM_005273974.2:c.494A>G	XP_005274031.1:p.Glu165Gly
XM_005273975.2:c.377A>G	XP_005274032.1:p.Glu126Gly
XM_011544994.1:c.272A>G	XP_011543296.1:p.Glu91Gly
XR_949903.1:n.1607A>G
XM_005273975.3:c.377A>G	XP_005274032.1:p.Glu126Gly
XM_017017669.2:c.494A>G	XP_016873158.1:p.Glu165Gly
XM_017017670.2:c.494A>G	XP_016873159.1:p.Glu165Gly
XM_017017671.2:c.1505A>G	XP_016873160.1:p.Glu502Gly
XR_949903.3:n.1603A>G
NM_002180.3:c.1505A>G MANE Select	NP_002171.2:p.Glu502Gly