Canonical Allele Identifier: CA381652832

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1197417877
• gnomAD v3: 11-68936593-G-A
• gnomAD v4: 11-68936593-G-A
• MyVariant Identifiers: chr11:g.68704061G>A (hg19) ; chr11:g.68936593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936593G>A , CM000673.2:g.68936593G>A	GRCh38
NC_000011.9:g.68704061G>A , CM000673.1:g.68704061G>A	GRCh37
NC_000011.8:g.68460637G>A	NCBI36
NG_007976.1:g.37743G>A , LRG_250:g.37743G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2113G>A MANE Select	ENSP00000255078.4:p.Glu705Lys
ENST00000674675.1:c.357G>A
ENST00000674878.1:c.357G>A
ENST00000674955.1:c.*830G>A	ENSP00000502463.1:n.*830G>A
ENST00000675118.1:c.1601G>A
ENST00000675389.1:n.388G>A
ENST00000675615.1:c.2113G>A	ENSP00000502413.1:p.Glu705Lys
ENST00000675648.1:n.1488G>A
ENST00000675916.1:c.357G>A
ENST00000676173.1:n.2858G>A
ENST00000676182.1:c.544G>A
ENST00000676228.1:c.*1436G>A	ENSP00000502375.1:n.*1436G>A
ENST00000255078.7:c.2113G>A	ENSP00000255078.3:p.Glu705Lys
ENST00000539064.5:n.1872G>A
ENST00000543739.5:n.1106G>A
NM_002180.2:c.2113G>A , LRG_250t1:c.2113G>A	NP_002171.2:p.Glu705Lys
XM_005273974.2:c.1102G>A	XP_005274031.1:p.Glu368Lys
XM_005273975.2:c.985G>A	XP_005274032.1:p.Glu329Lys
XM_011544994.1:c.880G>A	XP_011543296.1:p.Glu294Lys
XR_949903.1:n.2215G>A
XM_005273975.3:c.985G>A	XP_005274032.1:p.Glu329Lys
XM_017017669.2:c.1102G>A	XP_016873158.1:p.Glu368Lys
XM_017017670.2:c.1102G>A	XP_016873159.1:p.Glu368Lys
XR_949903.3:n.2211G>A
NM_002180.3:c.2113G>A MANE Select	NP_002171.2:p.Glu705Lys