Canonical Allele Identifier: CA475280715

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1160410592
• gnomAD v2: 11-68704180-G-A
• MyVariant Identifiers: chr11:g.68704180G>A (hg19) ; chr11:g.68936712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936712G>A , CM000673.2:g.68936712G>A	GRCh38
NC_000011.9:g.68704180G>A , CM000673.1:g.68704180G>A	GRCh37
NC_000011.8:g.68460756G>A	NCBI36
NG_007976.1:g.37862G>A , LRG_250:g.37862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2232G>A MANE Select	ENSP00000255078.4:p.Leu744=
ENST00000674675.1:c.476G>A
ENST00000674878.1:c.476G>A
ENST00000674955.1:c.*949G>A	ENSP00000502463.1:n.*949G>A
ENST00000675118.1:c.1720G>A
ENST00000675389.1:n.507G>A
ENST00000675615.1:c.2232G>A	ENSP00000502413.1:p.Leu744=
ENST00000675648.1:n.1607G>A
ENST00000675916.1:c.476G>A
ENST00000676173.1:n.2977G>A
ENST00000676182.1:c.663G>A
ENST00000676228.1:c.*1555G>A	ENSP00000502375.1:n.*1555G>A
ENST00000255078.7:c.2232G>A	ENSP00000255078.3:p.Leu744=
ENST00000539064.5:n.1991G>A
ENST00000543739.5:n.1225G>A
NM_002180.2:c.2232G>A , LRG_250t1:c.2232G>A	NP_002171.2:p.Leu744=
XM_005273974.2:c.1221G>A	XP_005274031.1:p.Leu407=
XM_005273975.2:c.1104G>A	XP_005274032.1:p.Leu368=
XM_011544994.1:c.999G>A	XP_011543296.1:p.Leu333=
XR_949903.1:n.2334G>A
XM_005273975.3:c.1104G>A	XP_005274032.1:p.Leu368=
XM_017017669.2:c.1221G>A	XP_016873158.1:p.Leu407=
XM_017017670.2:c.1221G>A	XP_016873159.1:p.Leu407=
XR_949903.3:n.2330G>A
NM_002180.3:c.2232G>A MANE Select	NP_002171.2:p.Leu744=