Canonical Allele Identifier: CA475204540

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1385595195
• gnomAD v2: 11-68704462-G-A
• gnomAD v4: 11-68936994-G-A
• MyVariant Identifiers: chr11:g.68704462G>A (hg19) ; chr11:g.68936994G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936994G>A , CM000673.2:g.68936994G>A	GRCh38
NC_000011.9:g.68704462G>A , CM000673.1:g.68704462G>A	GRCh37
NC_000011.8:g.68461038G>A	NCBI36
NG_007976.1:g.38144G>A , LRG_250:g.38144G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2514G>A MANE Select	ENSP00000255078.4:p.Leu838=
ENST00000674675.1:c.659G>A
ENST00000674878.1:c.619G>A
ENST00000675118.1:c.2002G>A
ENST00000675389.1:n.789G>A
ENST00000675615.1:c.2514G>A	ENSP00000502413.1:p.Leu838=
ENST00000675648.1:n.1889G>A
ENST00000675916.1:c.758G>A
ENST00000676173.1:n.3259G>A
ENST00000676182.1:c.945G>A
ENST00000676228.1:c.*1837G>A	ENSP00000502375.1:n.*1837G>A
ENST00000255078.7:c.2514G>A	ENSP00000255078.3:p.Leu838=
ENST00000539064.5:n.2273G>A
ENST00000543739.5:n.1507G>A
NM_002180.2:c.2514G>A , LRG_250t1:c.2514G>A	NP_002171.2:p.Leu838=
XM_005273974.2:c.1503G>A	XP_005274031.1:p.Leu501=
XM_005273975.2:c.1386G>A	XP_005274032.1:p.Leu462=
XM_011544994.1:c.1281G>A	XP_011543296.1:p.Leu427=
XR_949903.1:n.2616G>A
XM_005273975.3:c.1386G>A	XP_005274032.1:p.Leu462=
XM_017017669.2:c.1503G>A	XP_016873158.1:p.Leu501=
XM_017017670.2:c.1503G>A	XP_016873159.1:p.Leu501=
XR_949903.3:n.2612G>A
NM_002180.3:c.2514G>A MANE Select	NP_002171.2:p.Leu838=