Canonical Allele Identifier: CA6153812

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 258565
• ClinVar RCV Id: RCV000250041 ; RCV000318937 ; RCV000555689 ; RCV001711687 ; RCV001173363
• dbSNP Id: rs77822399
• ExAC: 11:68703887 G / A
• gnomAD v2: 11-68703887-G-A
• gnomAD v3: 11-68936419-G-A
• gnomAD v4: 11-68936419-G-A
• MyVariant Identifiers: chr11:g.68703887G>A (hg19) ; chr11:g.68936419G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936419G>A , CM000673.2:g.68936419G>A	GRCh38
NC_000011.9:g.68703887G>A , CM000673.1:g.68703887G>A	GRCh37
NC_000011.8:g.68460463G>A	NCBI36
NG_007976.1:g.37569G>A , LRG_250:g.37569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1939G>A MANE Select	ENSP00000255078.4:p.Val647Ile
ENST00000674675.1:c.183G>A
ENST00000674878.1:c.183G>A
ENST00000674955.1:c.*656G>A	ENSP00000502463.1:n.*656G>A
ENST00000675118.1:c.1427G>A
ENST00000675389.1:n.214G>A
ENST00000675615.1:c.1939G>A	ENSP00000502413.1:p.Val647Ile
ENST00000675648.1:n.1314G>A
ENST00000675916.1:c.183G>A
ENST00000676173.1:n.2684G>A
ENST00000676182.1:c.370G>A
ENST00000676228.1:c.*1262G>A	ENSP00000502375.1:n.*1262G>A
ENST00000255078.7:c.1939G>A	ENSP00000255078.3:p.Val647Ile
ENST00000539064.5:n.1698G>A
ENST00000543739.5:n.932G>A
ENST00000545475.1:n.535G>A
NM_002180.2:c.1939G>A , LRG_250t1:c.1939G>A	NP_002171.2:p.Val647Ile
XM_005273974.2:c.928G>A	XP_005274031.1:p.Val310Ile
XM_005273975.2:c.811G>A	XP_005274032.1:p.Val271Ile
XM_011544994.1:c.706G>A	XP_011543296.1:p.Val236Ile
XR_949903.1:n.2041G>A
XM_005273975.3:c.811G>A	XP_005274032.1:p.Val271Ile
XM_017017669.2:c.928G>A	XP_016873158.1:p.Val310Ile
XM_017017670.2:c.928G>A	XP_016873159.1:p.Val310Ile
XR_949903.3:n.2037G>A
NM_002180.3:c.1939G>A MANE Select	NP_002171.2:p.Val647Ile