Canonical Allele Identifier: CA381653197

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1214445473
• gnomAD v2: 11-68704227-A-G
• gnomAD v4: 11-68936759-A-G
• MyVariant Identifiers: chr11:g.68704227A>G (hg19) ; chr11:g.68936759A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936759A>G , CM000673.2:g.68936759A>G	GRCh38
NC_000011.9:g.68704227A>G , CM000673.1:g.68704227A>G	GRCh37
NC_000011.8:g.68460803A>G	NCBI36
NG_007976.1:g.37909A>G , LRG_250:g.37909A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2279A>G MANE Select	ENSP00000255078.4:p.Gln760Arg
ENST00000674675.1:c.523A>G
ENST00000674878.1:c.523A>G
ENST00000674955.1:c.*996A>G	ENSP00000502463.1:n.*996A>G
ENST00000675118.1:c.1767A>G
ENST00000675389.1:n.554A>G
ENST00000675615.1:c.2279A>G	ENSP00000502413.1:p.Gln760Arg
ENST00000675648.1:n.1654A>G
ENST00000675916.1:c.523A>G
ENST00000676173.1:n.3024A>G
ENST00000676182.1:c.710A>G
ENST00000676228.1:c.*1602A>G	ENSP00000502375.1:n.*1602A>G
ENST00000255078.7:c.2279A>G	ENSP00000255078.3:p.Gln760Arg
ENST00000539064.5:n.2038A>G
ENST00000543739.5:n.1272A>G
NM_002180.2:c.2279A>G , LRG_250t1:c.2279A>G	NP_002171.2:p.Gln760Arg
XM_005273974.2:c.1268A>G	XP_005274031.1:p.Gln423Arg
XM_005273975.2:c.1151A>G	XP_005274032.1:p.Gln384Arg
XM_011544994.1:c.1046A>G	XP_011543296.1:p.Gln349Arg
XR_949903.1:n.2381A>G
XM_005273975.3:c.1151A>G	XP_005274032.1:p.Gln384Arg
XM_017017669.2:c.1268A>G	XP_016873158.1:p.Gln423Arg
XM_017017670.2:c.1268A>G	XP_016873159.1:p.Gln423Arg
XR_949903.3:n.2377A>G
NM_002180.3:c.2279A>G MANE Select	NP_002171.2:p.Gln760Arg