Canonical Allele Identifier: CA6153850

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 245631
• ClinVar RCV Id: RCV002429144
• dbSNP Id: rs143986510
• ExAC: 11:68704124 G / A
• gnomAD v2: 11-68704124-G-A
• gnomAD v3: 11-68936656-G-A
• gnomAD v4: 11-68936656-G-A
• MyVariant Identifiers: chr11:g.68704124G>A (hg19) ; chr11:g.68936656G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936656G>A , CM000673.2:g.68936656G>A	GRCh38
NC_000011.9:g.68704124G>A , CM000673.1:g.68704124G>A	GRCh37
NC_000011.8:g.68460700G>A	NCBI36
NG_007976.1:g.37806G>A , LRG_250:g.37806G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2176G>A MANE Select	ENSP00000255078.4:p.Val726Met
ENST00000674675.1:c.420G>A
ENST00000674878.1:c.420G>A
ENST00000674955.1:c.*893G>A	ENSP00000502463.1:n.*893G>A
ENST00000675118.1:c.1664G>A
ENST00000675389.1:n.451G>A
ENST00000675615.1:c.2176G>A	ENSP00000502413.1:p.Val726Met
ENST00000675648.1:n.1551G>A
ENST00000675916.1:c.420G>A
ENST00000676173.1:n.2921G>A
ENST00000676182.1:c.607G>A
ENST00000676228.1:c.*1499G>A	ENSP00000502375.1:n.*1499G>A
ENST00000255078.7:c.2176G>A	ENSP00000255078.3:p.Val726Met
ENST00000539064.5:n.1935G>A
ENST00000543739.5:n.1169G>A
NM_002180.2:c.2176G>A , LRG_250t1:c.2176G>A	NP_002171.2:p.Val726Met
XM_005273974.2:c.1165G>A	XP_005274031.1:p.Val389Met
XM_005273975.2:c.1048G>A	XP_005274032.1:p.Val350Met
XM_011544994.1:c.943G>A	XP_011543296.1:p.Val315Met
XR_949903.1:n.2278G>A
XM_005273975.3:c.1048G>A	XP_005274032.1:p.Val350Met
XM_017017669.2:c.1165G>A	XP_016873158.1:p.Val389Met
XM_017017670.2:c.1165G>A	XP_016873159.1:p.Val389Met
XR_949903.3:n.2274G>A
NM_002180.3:c.2176G>A MANE Select	NP_002171.2:p.Val726Met