Canonical Allele Identifier: CA475280774

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1371067231
• gnomAD v2: 11-68704276-G-A
• MyVariant Identifiers: chr11:g.68704276G>A (hg19) ; chr11:g.68936808G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936808G>A , CM000673.2:g.68936808G>A	GRCh38
NC_000011.9:g.68704276G>A , CM000673.1:g.68704276G>A	GRCh37
NC_000011.8:g.68460852G>A	NCBI36
NG_007976.1:g.37958G>A , LRG_250:g.37958G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2328G>A MANE Select	ENSP00000255078.4:p.Lys776=
ENST00000674675.1:c.572G>A
ENST00000674878.1:c.547+25G>A
ENST00000674955.1:c.*1045G>A	ENSP00000502463.1:n.*1045G>A
ENST00000675118.1:c.1816G>A
ENST00000675389.1:n.603G>A
ENST00000675615.1:c.2328G>A	ENSP00000502413.1:p.Lys776=
ENST00000675648.1:n.1703G>A
ENST00000675916.1:c.572G>A
ENST00000676173.1:n.3073G>A
ENST00000676182.1:c.759G>A
ENST00000676228.1:c.*1651G>A	ENSP00000502375.1:n.*1651G>A
ENST00000255078.7:c.2328G>A	ENSP00000255078.3:p.Lys776=
ENST00000539064.5:n.2087G>A
ENST00000543739.5:n.1321G>A
NM_002180.2:c.2328G>A , LRG_250t1:c.2328G>A	NP_002171.2:p.Lys776=
XM_005273974.2:c.1317G>A	XP_005274031.1:p.Lys439=
XM_005273975.2:c.1200G>A	XP_005274032.1:p.Lys400=
XM_011544994.1:c.1095G>A	XP_011543296.1:p.Lys365=
XR_949903.1:n.2430G>A
XM_005273975.3:c.1200G>A	XP_005274032.1:p.Lys400=
XM_017017669.2:c.1317G>A	XP_016873158.1:p.Lys439=
XM_017017670.2:c.1317G>A	XP_016873159.1:p.Lys439=
XR_949903.3:n.2426G>A
NM_002180.3:c.2328G>A MANE Select	NP_002171.2:p.Lys776=