Canonical Allele Identifier: CA381653784

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1173901507
• MyVariant Identifiers: chr11:g.68704446T>C (hg19) ; chr11:g.68936978T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936978T>C , CM000673.2:g.68936978T>C	GRCh38
NC_000011.9:g.68704446T>C , CM000673.1:g.68704446T>C	GRCh37
NC_000011.8:g.68461022T>C	NCBI36
NG_007976.1:g.38128T>C , LRG_250:g.38128T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2498T>C MANE Select	ENSP00000255078.4:p.Leu833Pro
ENST00000674675.1:c.643T>C
ENST00000674878.1:c.603T>C
ENST00000675118.1:c.1986T>C
ENST00000675389.1:n.773T>C
ENST00000675615.1:c.2498T>C	ENSP00000502413.1:p.Leu833Pro
ENST00000675648.1:n.1873T>C
ENST00000675916.1:c.742T>C
ENST00000676173.1:n.3243T>C
ENST00000676182.1:c.929T>C
ENST00000676228.1:c.*1821T>C	ENSP00000502375.1:n.*1821T>C
ENST00000255078.7:c.2498T>C	ENSP00000255078.3:p.Leu833Pro
ENST00000539064.5:n.2257T>C
ENST00000543739.5:n.1491T>C
NM_002180.2:c.2498T>C , LRG_250t1:c.2498T>C	NP_002171.2:p.Leu833Pro
XM_005273974.2:c.1487T>C	XP_005274031.1:p.Leu496Pro
XM_005273975.2:c.1370T>C	XP_005274032.1:p.Leu457Pro
XM_011544994.1:c.1265T>C	XP_011543296.1:p.Leu422Pro
XR_949903.1:n.2600T>C
XM_005273975.3:c.1370T>C	XP_005274032.1:p.Leu457Pro
XM_017017669.2:c.1487T>C	XP_016873158.1:p.Leu496Pro
XM_017017670.2:c.1487T>C	XP_016873159.1:p.Leu496Pro
XR_949903.3:n.2596T>C
NM_002180.3:c.2498T>C MANE Select	NP_002171.2:p.Leu833Pro