Canonical Allele Identifier: CA381651543

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936273-A-G
• MyVariant Identifiers: chr11:g.68703741A>G (hg19) ; chr11:g.68936273A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936273A>G , CM000673.2:g.68936273A>G	GRCh38
NC_000011.9:g.68703741A>G , CM000673.1:g.68703741A>G	GRCh37
NC_000011.8:g.68460317A>G	NCBI36
NG_007976.1:g.37423A>G , LRG_250:g.37423A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1793A>G MANE Select	ENSP00000255078.4:p.Asn598Ser
ENST00000674675.1:c.37A>G
ENST00000674878.1:c.37A>G
ENST00000674955.1:c.*510A>G	ENSP00000502463.1:n.*510A>G
ENST00000675118.1:c.1281A>G
ENST00000675389.1:n.68A>G
ENST00000675615.1:c.1793A>G	ENSP00000502413.1:p.Asn598Ser
ENST00000675648.1:n.1168A>G
ENST00000675916.1:c.37A>G
ENST00000676173.1:n.2538A>G
ENST00000676182.1:c.224A>G
ENST00000676228.1:c.*1116A>G	ENSP00000502375.1:n.*1116A>G
ENST00000255078.7:c.1793A>G	ENSP00000255078.3:p.Asn598Ser
ENST00000539064.5:n.1552A>G
ENST00000541229.5:n.488A>G
ENST00000543739.5:n.786A>G
ENST00000545475.1:n.389A>G
NM_002180.2:c.1793A>G , LRG_250t1:c.1793A>G	NP_002171.2:p.Asn598Ser
XM_005273974.2:c.782A>G	XP_005274031.1:p.Asn261Ser
XM_005273975.2:c.665A>G	XP_005274032.1:p.Asn222Ser
XM_011544994.1:c.560A>G	XP_011543296.1:p.Asn187Ser
XR_949903.1:n.1895A>G
XM_005273975.3:c.665A>G	XP_005274032.1:p.Asn222Ser
XM_017017669.2:c.782A>G	XP_016873158.1:p.Asn261Ser
XM_017017670.2:c.782A>G	XP_016873159.1:p.Asn261Ser
XR_949903.3:n.1891A>G
NM_002180.3:c.1793A>G MANE Select	NP_002171.2:p.Asn598Ser