Canonical Allele Identifier: CA381653769

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704437T>C (hg19) ; chr11:g.68936969T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936969T>C , CM000673.2:g.68936969T>C	GRCh38
NC_000011.9:g.68704437T>C , CM000673.1:g.68704437T>C	GRCh37
NC_000011.8:g.68461013T>C	NCBI36
NG_007976.1:g.38119T>C , LRG_250:g.38119T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2489T>C MANE Select	ENSP00000255078.4:p.Leu830Pro
ENST00000674675.1:c.634T>C
ENST00000674878.1:c.594T>C
ENST00000675118.1:c.1977T>C
ENST00000675389.1:n.764T>C
ENST00000675615.1:c.2489T>C	ENSP00000502413.1:p.Leu830Pro
ENST00000675648.1:n.1864T>C
ENST00000675916.1:c.733T>C
ENST00000676173.1:n.3234T>C
ENST00000676182.1:c.920T>C
ENST00000676228.1:c.*1812T>C	ENSP00000502375.1:n.*1812T>C
ENST00000255078.7:c.2489T>C	ENSP00000255078.3:p.Leu830Pro
ENST00000539064.5:n.2248T>C
ENST00000543739.5:n.1482T>C
NM_002180.2:c.2489T>C , LRG_250t1:c.2489T>C	NP_002171.2:p.Leu830Pro
XM_005273974.2:c.1478T>C	XP_005274031.1:p.Leu493Pro
XM_005273975.2:c.1361T>C	XP_005274032.1:p.Leu454Pro
XM_011544994.1:c.1256T>C	XP_011543296.1:p.Leu419Pro
XR_949903.1:n.2591T>C
XM_005273975.3:c.1361T>C	XP_005274032.1:p.Leu454Pro
XM_017017669.2:c.1478T>C	XP_016873158.1:p.Leu493Pro
XM_017017670.2:c.1478T>C	XP_016873159.1:p.Leu493Pro
XR_949903.3:n.2587T>C
NM_002180.3:c.2489T>C MANE Select	NP_002171.2:p.Leu830Pro