Canonical Allele Identifier: CA475280838

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704327G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936859G>A , CM000673.2:g.68936859G>A	GRCh38
NC_000011.9:g.68704327G>A , CM000673.1:g.68704327G>A	GRCh37
NC_000011.8:g.68460903G>A	NCBI36
NG_007976.1:g.38009G>A , LRG_250:g.38009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2379G>A MANE Select	ENSP00000255078.4:p.Leu793=
ENST00000674675.1:c.587+36G>A
ENST00000674878.1:c.548-64G>A
ENST00000674955.1:c.*1096G>A	ENSP00000502463.1:n.*1096G>A
ENST00000675118.1:c.1867G>A
ENST00000675389.1:n.654G>A
ENST00000675615.1:c.2379G>A	ENSP00000502413.1:p.Leu793=
ENST00000675648.1:n.1754G>A
ENST00000675916.1:c.623G>A
ENST00000676173.1:n.3124G>A
ENST00000676182.1:c.810G>A
ENST00000676228.1:c.*1702G>A	ENSP00000502375.1:n.*1702G>A
ENST00000255078.7:c.2379G>A	ENSP00000255078.3:p.Leu793=
ENST00000539064.5:n.2138G>A
ENST00000543739.5:n.1372G>A
NM_002180.2:c.2379G>A , LRG_250t1:c.2379G>A	NP_002171.2:p.Leu793=
XM_005273974.2:c.1368G>A	XP_005274031.1:p.Leu456=
XM_005273975.2:c.1251G>A	XP_005274032.1:p.Leu417=
XM_011544994.1:c.1146G>A	XP_011543296.1:p.Leu382=
XR_949903.1:n.2481G>A
XM_005273975.3:c.1251G>A	XP_005274032.1:p.Leu417=
XM_017017669.2:c.1368G>A	XP_016873158.1:p.Leu456=
XM_017017670.2:c.1368G>A	XP_016873159.1:p.Leu456=
XR_949903.3:n.2477G>A
NM_002180.3:c.2379G>A MANE Select	NP_002171.2:p.Leu793=