Canonical Allele Identifier: CA381652707

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs773136945
• gnomAD v2: 11-68703999-A-G
• gnomAD v3: 11-68936531-A-G
• gnomAD v4: 11-68936531-A-G
• MyVariant Identifiers: chr11:g.68703999A>G (hg19) ; chr11:g.68936531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936531A>G , CM000673.2:g.68936531A>G	GRCh38
NC_000011.9:g.68703999A>G , CM000673.1:g.68703999A>G	GRCh37
NC_000011.8:g.68460575A>G	NCBI36
NG_007976.1:g.37681A>G , LRG_250:g.37681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2051A>G MANE Select	ENSP00000255078.4:p.Gln684Arg
ENST00000674675.1:c.295A>G
ENST00000674878.1:c.295A>G
ENST00000674955.1:c.*768A>G	ENSP00000502463.1:n.*768A>G
ENST00000675118.1:c.1539A>G
ENST00000675389.1:n.326A>G
ENST00000675615.1:c.2051A>G	ENSP00000502413.1:p.Gln684Arg
ENST00000675648.1:n.1426A>G
ENST00000675916.1:c.295A>G
ENST00000676173.1:n.2796A>G
ENST00000676182.1:c.482A>G
ENST00000676228.1:c.*1374A>G	ENSP00000502375.1:n.*1374A>G
ENST00000255078.7:c.2051A>G	ENSP00000255078.3:p.Gln684Arg
ENST00000539064.5:n.1810A>G
ENST00000543739.5:n.1044A>G
NM_002180.2:c.2051A>G , LRG_250t1:c.2051A>G	NP_002171.2:p.Gln684Arg
XM_005273974.2:c.1040A>G	XP_005274031.1:p.Gln347Arg
XM_005273975.2:c.923A>G	XP_005274032.1:p.Gln308Arg
XM_011544994.1:c.818A>G	XP_011543296.1:p.Gln273Arg
XR_949903.1:n.2153A>G
XM_005273975.3:c.923A>G	XP_005274032.1:p.Gln308Arg
XM_017017669.2:c.1040A>G	XP_016873158.1:p.Gln347Arg
XM_017017670.2:c.1040A>G	XP_016873159.1:p.Gln347Arg
XR_949903.3:n.2149A>G
NM_002180.3:c.2051A>G MANE Select	NP_002171.2:p.Gln684Arg