Canonical Allele Identifier: CA475279311

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704018C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936550C>T , CM000673.2:g.68936550C>T	GRCh38
NC_000011.9:g.68704018C>T , CM000673.1:g.68704018C>T	GRCh37
NC_000011.8:g.68460594C>T	NCBI36
NG_007976.1:g.37700C>T , LRG_250:g.37700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2070C>T MANE Select	ENSP00000255078.4:p.Ala690=
ENST00000674675.1:c.314C>T
ENST00000674878.1:c.314C>T
ENST00000674955.1:c.*787C>T	ENSP00000502463.1:n.*787C>T
ENST00000675118.1:c.1558C>T
ENST00000675389.1:n.345C>T
ENST00000675615.1:c.2070C>T	ENSP00000502413.1:p.Ala690=
ENST00000675648.1:n.1445C>T
ENST00000675916.1:c.314C>T
ENST00000676173.1:n.2815C>T
ENST00000676182.1:c.501C>T
ENST00000676228.1:c.*1393C>T	ENSP00000502375.1:n.*1393C>T
ENST00000255078.7:c.2070C>T	ENSP00000255078.3:p.Ala690=
ENST00000539064.5:n.1829C>T
ENST00000543739.5:n.1063C>T
NM_002180.2:c.2070C>T , LRG_250t1:c.2070C>T	NP_002171.2:p.Ala690=
XM_005273974.2:c.1059C>T	XP_005274031.1:p.Ala353=
XM_005273975.2:c.942C>T	XP_005274032.1:p.Ala314=
XM_011544994.1:c.837C>T	XP_011543296.1:p.Ala279=
XR_949903.1:n.2172C>T
XM_005273975.3:c.942C>T	XP_005274032.1:p.Ala314=
XM_017017669.2:c.1059C>T	XP_016873158.1:p.Ala353=
XM_017017670.2:c.1059C>T	XP_016873159.1:p.Ala353=
XR_949903.3:n.2168C>T
NM_002180.3:c.2070C>T MANE Select	NP_002171.2:p.Ala690=