Canonical Allele Identifier: CA475280744

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2934397
• ClinVar RCV Id: RCV003796147
• gnomAD v4: 11-68936754-C-G
• MyVariant Identifiers: chr11:g.68704222C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936754C>G , CM000673.2:g.68936754C>G	GRCh38
NC_000011.9:g.68704222C>G , CM000673.1:g.68704222C>G	GRCh37
NC_000011.8:g.68460798C>G	NCBI36
NG_007976.1:g.37904C>G , LRG_250:g.37904C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2274C>G MANE Select	ENSP00000255078.4:p.Val758=
ENST00000674675.1:c.518C>G
ENST00000674878.1:c.518C>G
ENST00000674955.1:c.*991C>G	ENSP00000502463.1:n.*991C>G
ENST00000675118.1:c.1762C>G
ENST00000675389.1:n.549C>G
ENST00000675615.1:c.2274C>G	ENSP00000502413.1:p.Val758=
ENST00000675648.1:n.1649C>G
ENST00000675916.1:c.518C>G
ENST00000676173.1:n.3019C>G
ENST00000676182.1:c.705C>G
ENST00000676228.1:c.*1597C>G	ENSP00000502375.1:n.*1597C>G
ENST00000255078.7:c.2274C>G	ENSP00000255078.3:p.Val758=
ENST00000539064.5:n.2033C>G
ENST00000543739.5:n.1267C>G
NM_002180.2:c.2274C>G , LRG_250t1:c.2274C>G	NP_002171.2:p.Val758=
XM_005273974.2:c.1263C>G	XP_005274031.1:p.Val421=
XM_005273975.2:c.1146C>G	XP_005274032.1:p.Val382=
XM_011544994.1:c.1041C>G	XP_011543296.1:p.Val347=
XR_949903.1:n.2376C>G
XM_005273975.3:c.1146C>G	XP_005274032.1:p.Val382=
XM_017017669.2:c.1263C>G	XP_016873158.1:p.Val421=
XM_017017670.2:c.1263C>G	XP_016873159.1:p.Val421=
XR_949903.3:n.2372C>G
NM_002180.3:c.2274C>G MANE Select	NP_002171.2:p.Val758=