Canonical Allele Identifier: CA475279753

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936616-C-T
• MyVariant Identifiers: chr11:g.68704084C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936616C>T , CM000673.2:g.68936616C>T	GRCh38
NC_000011.9:g.68704084C>T , CM000673.1:g.68704084C>T	GRCh37
NC_000011.8:g.68460660C>T	NCBI36
NG_007976.1:g.37766C>T , LRG_250:g.37766C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2136C>T MANE Select	ENSP00000255078.4:p.Leu712=
ENST00000674675.1:c.380C>T
ENST00000674878.1:c.380C>T
ENST00000674955.1:c.*853C>T	ENSP00000502463.1:n.*853C>T
ENST00000675118.1:c.1624C>T
ENST00000675389.1:n.411C>T
ENST00000675615.1:c.2136C>T	ENSP00000502413.1:p.Leu712=
ENST00000675648.1:n.1511C>T
ENST00000675916.1:c.380C>T
ENST00000676173.1:n.2881C>T
ENST00000676182.1:c.567C>T
ENST00000676228.1:c.*1459C>T	ENSP00000502375.1:n.*1459C>T
ENST00000255078.7:c.2136C>T	ENSP00000255078.3:p.Leu712=
ENST00000539064.5:n.1895C>T
ENST00000543739.5:n.1129C>T
NM_002180.2:c.2136C>T , LRG_250t1:c.2136C>T	NP_002171.2:p.Leu712=
XM_005273974.2:c.1125C>T	XP_005274031.1:p.Leu375=
XM_005273975.2:c.1008C>T	XP_005274032.1:p.Leu336=
XM_011544994.1:c.903C>T	XP_011543296.1:p.Leu301=
XR_949903.1:n.2238C>T
XM_005273975.3:c.1008C>T	XP_005274032.1:p.Leu336=
XM_017017669.2:c.1125C>T	XP_016873158.1:p.Leu375=
XM_017017670.2:c.1125C>T	XP_016873159.1:p.Leu375=
XR_949903.3:n.2234C>T
NM_002180.3:c.2136C>T MANE Select	NP_002171.2:p.Leu712=