Canonical Allele Identifier: CA381652627

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1508516
• ClinVar RCV Id: RCV002016162
• dbSNP Id: rs377743886
• gnomAD v4: 11-68936492-C-G
• MyVariant Identifiers: chr11:g.68703960C>G (hg19) ; chr11:g.68936492C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936492C>G , CM000673.2:g.68936492C>G	GRCh38
NC_000011.9:g.68703960C>G , CM000673.1:g.68703960C>G	GRCh37
NC_000011.8:g.68460536C>G	NCBI36
NG_007976.1:g.37642C>G , LRG_250:g.37642C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2012C>G MANE Select	ENSP00000255078.4:p.Thr671Arg
ENST00000674675.1:c.256C>G
ENST00000674878.1:c.256C>G
ENST00000674955.1:c.*729C>G	ENSP00000502463.1:n.*729C>G
ENST00000675118.1:c.1500C>G
ENST00000675389.1:n.287C>G
ENST00000675615.1:c.2012C>G	ENSP00000502413.1:p.Thr671Arg
ENST00000675648.1:n.1387C>G
ENST00000675916.1:c.256C>G
ENST00000676173.1:n.2757C>G
ENST00000676182.1:c.443C>G
ENST00000676228.1:c.*1335C>G	ENSP00000502375.1:n.*1335C>G
ENST00000255078.7:c.2012C>G	ENSP00000255078.3:p.Thr671Arg
ENST00000539064.5:n.1771C>G
ENST00000543739.5:n.1005C>G
NM_002180.2:c.2012C>G , LRG_250t1:c.2012C>G	NP_002171.2:p.Thr671Arg
XM_005273974.2:c.1001C>G	XP_005274031.1:p.Thr334Arg
XM_005273975.2:c.884C>G	XP_005274032.1:p.Thr295Arg
XM_011544994.1:c.779C>G	XP_011543296.1:p.Thr260Arg
XR_949903.1:n.2114C>G
XM_005273975.3:c.884C>G	XP_005274032.1:p.Thr295Arg
XM_017017669.2:c.1001C>G	XP_016873158.1:p.Thr334Arg
XM_017017670.2:c.1001C>G	XP_016873159.1:p.Thr334Arg
XR_949903.3:n.2110C>G
NM_002180.3:c.2012C>G MANE Select	NP_002171.2:p.Thr671Arg