Canonical Allele Identifier: CA381651479

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936245-G-A
• COSMIC: COSM1322207
• MyVariant Identifiers: chr11:g.68703713G>A (hg19) ; chr11:g.68936245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936245G>A , CM000673.2:g.68936245G>A	GRCh38
NC_000011.9:g.68703713G>A , CM000673.1:g.68703713G>A	GRCh37
NC_000011.8:g.68460289G>A	NCBI36
NG_007976.1:g.37395G>A , LRG_250:g.37395G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1765G>A MANE Select	ENSP00000255078.4:p.Gly589Ser
ENST00000674675.1:c.9G>A
ENST00000674878.1:c.9G>A
ENST00000674955.1:c.*482G>A	ENSP00000502463.1:n.*482G>A
ENST00000675118.1:c.1253G>A
ENST00000675389.1:n.40G>A
ENST00000675615.1:c.1765G>A	ENSP00000502413.1:p.Gly589Ser
ENST00000675648.1:n.1140G>A
ENST00000675916.1:c.9G>A
ENST00000676173.1:n.2510G>A
ENST00000676182.1:c.196G>A
ENST00000676228.1:c.*1088G>A	ENSP00000502375.1:n.*1088G>A
ENST00000255078.7:c.1765G>A	ENSP00000255078.3:p.Gly589Ser
ENST00000539064.5:n.1524G>A
ENST00000541229.5:n.460G>A
ENST00000543739.5:n.758G>A
ENST00000545475.1:n.361G>A
NM_002180.2:c.1765G>A , LRG_250t1:c.1765G>A	NP_002171.2:p.Gly589Ser
XM_005273974.2:c.754G>A	XP_005274031.1:p.Gly252Ser
XM_005273975.2:c.637G>A	XP_005274032.1:p.Gly213Ser
XM_011544994.1:c.532G>A	XP_011543296.1:p.Gly178Ser
XR_949903.1:n.1867G>A
XM_005273975.3:c.637G>A	XP_005274032.1:p.Gly213Ser
XM_017017669.2:c.754G>A	XP_016873158.1:p.Gly252Ser
XM_017017670.2:c.754G>A	XP_016873159.1:p.Gly252Ser
XR_949903.3:n.1863G>A
NM_002180.3:c.1765G>A MANE Select	NP_002171.2:p.Gly589Ser