Canonical Allele Identifier: CA475204235

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703721T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936253T>C , CM000673.2:g.68936253T>C	GRCh38
NC_000011.9:g.68703721T>C , CM000673.1:g.68703721T>C	GRCh37
NC_000011.8:g.68460297T>C	NCBI36
NG_007976.1:g.37403T>C , LRG_250:g.37403T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1773T>C MANE Select	ENSP00000255078.4:p.Leu591=
ENST00000674675.1:c.17T>C
ENST00000674878.1:c.17T>C
ENST00000674955.1:c.*490T>C	ENSP00000502463.1:n.*490T>C
ENST00000675118.1:c.1261T>C
ENST00000675389.1:n.48T>C
ENST00000675615.1:c.1773T>C	ENSP00000502413.1:p.Leu591=
ENST00000675648.1:n.1148T>C
ENST00000675916.1:c.17T>C
ENST00000676173.1:n.2518T>C
ENST00000676182.1:c.204T>C
ENST00000676228.1:c.*1096T>C	ENSP00000502375.1:n.*1096T>C
ENST00000255078.7:c.1773T>C	ENSP00000255078.3:p.Leu591=
ENST00000539064.5:n.1532T>C
ENST00000541229.5:n.468T>C
ENST00000543739.5:n.766T>C
ENST00000545475.1:n.369T>C
NM_002180.2:c.1773T>C , LRG_250t1:c.1773T>C	NP_002171.2:p.Leu591=
XM_005273974.2:c.762T>C	XP_005274031.1:p.Leu254=
XM_005273975.2:c.645T>C	XP_005274032.1:p.Leu215=
XM_011544994.1:c.540T>C	XP_011543296.1:p.Leu180=
XR_949903.1:n.1875T>C
XM_005273975.3:c.645T>C	XP_005274032.1:p.Leu215=
XM_017017669.2:c.762T>C	XP_016873158.1:p.Leu254=
XM_017017670.2:c.762T>C	XP_016873159.1:p.Leu254=
XR_949903.3:n.1871T>C
NM_002180.3:c.1773T>C MANE Select	NP_002171.2:p.Leu591=