Canonical Allele Identifier: CA381649795

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933827-C-G
• MyVariant Identifiers: chr11:g.68701295C>G (hg19) ; chr11:g.68933827C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933827C>G , CM000673.2:g.68933827C>G	GRCh38
NC_000011.9:g.68701295C>G , CM000673.1:g.68701295C>G	GRCh37
NC_000011.8:g.68457871C>G	NCBI36
NG_007976.1:g.34977C>G , LRG_250:g.34977C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1451C>G MANE Select	ENSP00000255078.4:p.Thr484Arg
ENST00000674955.1:c.*168C>G	ENSP00000502463.1:n.*168C>G
ENST00000675118.1:c.939C>G
ENST00000675205.1:n.183+346C>G
ENST00000675615.1:c.1451C>G	ENSP00000502413.1:p.Thr484Arg
ENST00000675648.1:n.826C>G
ENST00000675997.1:n.113-637C>G
ENST00000676173.1:n.2196C>G
ENST00000676228.1:c.*774C>G	ENSP00000502375.1:n.*774C>G
ENST00000255078.7:c.1451C>G	ENSP00000255078.3:p.Thr484Arg
ENST00000537458.5:n.568C>G
ENST00000539064.5:n.1210C>G
ENST00000541229.5:n.146C>G
ENST00000543739.5:n.568C>G
NM_002180.2:c.1451C>G , LRG_250t1:c.1451C>G	NP_002171.2:p.Thr484Arg
XM_005273974.2:c.440C>G	XP_005274031.1:p.Thr147Arg
XM_005273975.2:c.323C>G	XP_005274032.1:p.Thr108Arg
XM_011544994.1:c.218C>G	XP_011543296.1:p.Thr73Arg
XR_949903.1:n.1553C>G
XM_005273975.3:c.323C>G	XP_005274032.1:p.Thr108Arg
XM_017017669.2:c.440C>G	XP_016873158.1:p.Thr147Arg
XM_017017670.2:c.440C>G	XP_016873159.1:p.Thr147Arg
XM_017017671.2:c.1451C>G	XP_016873160.1:p.Thr484Arg
XR_949903.3:n.1549C>G
NM_002180.3:c.1451C>G MANE Select	NP_002171.2:p.Thr484Arg