Canonical Allele Identifier: CA381652746

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1163929
• ClinVar RCV Id: RCV001509414
• dbSNP Id: rs2154008863
• MyVariant Identifiers: chr11:g.68704017C>G (hg19) ; chr11:g.68936549C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936549C>G , CM000673.2:g.68936549C>G	GRCh38
NC_000011.9:g.68704017C>G , CM000673.1:g.68704017C>G	GRCh37
NC_000011.8:g.68460593C>G	NCBI36
NG_007976.1:g.37699C>G , LRG_250:g.37699C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2069C>G MANE Select	ENSP00000255078.4:p.Ala690Gly
ENST00000674675.1:c.313C>G
ENST00000674878.1:c.313C>G
ENST00000674955.1:c.*786C>G	ENSP00000502463.1:n.*786C>G
ENST00000675118.1:c.1557C>G
ENST00000675389.1:n.344C>G
ENST00000675615.1:c.2069C>G	ENSP00000502413.1:p.Ala690Gly
ENST00000675648.1:n.1444C>G
ENST00000675916.1:c.313C>G
ENST00000676173.1:n.2814C>G
ENST00000676182.1:c.500C>G
ENST00000676228.1:c.*1392C>G	ENSP00000502375.1:n.*1392C>G
ENST00000255078.7:c.2069C>G	ENSP00000255078.3:p.Ala690Gly
ENST00000539064.5:n.1828C>G
ENST00000543739.5:n.1062C>G
NM_002180.2:c.2069C>G , LRG_250t1:c.2069C>G	NP_002171.2:p.Ala690Gly
XM_005273974.2:c.1058C>G	XP_005274031.1:p.Ala353Gly
XM_005273975.2:c.941C>G	XP_005274032.1:p.Ala314Gly
XM_011544994.1:c.836C>G	XP_011543296.1:p.Ala279Gly
XR_949903.1:n.2171C>G
XM_005273975.3:c.941C>G	XP_005274032.1:p.Ala314Gly
XM_017017669.2:c.1058C>G	XP_016873158.1:p.Ala353Gly
XM_017017670.2:c.1058C>G	XP_016873159.1:p.Ala353Gly
XR_949903.3:n.2167C>G
NM_002180.3:c.2069C>G MANE Select	NP_002171.2:p.Ala690Gly