Canonical Allele Identifier: CA381653396

Gene: IGHMBP2

Linked Data

• COSMIC: COSM6312443
• MyVariant Identifiers: chr11:g.68704304G>T (hg19) ; chr11:g.68936836G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936836G>T , CM000673.2:g.68936836G>T	GRCh38
NC_000011.9:g.68704304G>T , CM000673.1:g.68704304G>T	GRCh37
NC_000011.8:g.68460880G>T	NCBI36
NG_007976.1:g.37986G>T , LRG_250:g.37986G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2356G>T MANE Select	ENSP00000255078.4:p.Ala786Ser
ENST00000674675.1:c.587+13G>T
ENST00000674878.1:c.547+53G>T
ENST00000674955.1:c.*1073G>T	ENSP00000502463.1:n.*1073G>T
ENST00000675118.1:c.1844G>T
ENST00000675389.1:n.631G>T
ENST00000675615.1:c.2356G>T	ENSP00000502413.1:p.Ala786Ser
ENST00000675648.1:n.1731G>T
ENST00000675916.1:c.600G>T
ENST00000676173.1:n.3101G>T
ENST00000676182.1:c.787G>T
ENST00000676228.1:c.*1679G>T	ENSP00000502375.1:n.*1679G>T
ENST00000255078.7:c.2356G>T	ENSP00000255078.3:p.Ala786Ser
ENST00000539064.5:n.2115G>T
ENST00000543739.5:n.1349G>T
NM_002180.2:c.2356G>T , LRG_250t1:c.2356G>T	NP_002171.2:p.Ala786Ser
XM_005273974.2:c.1345G>T	XP_005274031.1:p.Ala449Ser
XM_005273975.2:c.1228G>T	XP_005274032.1:p.Ala410Ser
XM_011544994.1:c.1123G>T	XP_011543296.1:p.Ala375Ser
XR_949903.1:n.2458G>T
XM_005273975.3:c.1228G>T	XP_005274032.1:p.Ala410Ser
XM_017017669.2:c.1345G>T	XP_016873158.1:p.Ala449Ser
XM_017017670.2:c.1345G>T	XP_016873159.1:p.Ala449Ser
XR_949903.3:n.2454G>T
NM_002180.3:c.2356G>T MANE Select	NP_002171.2:p.Ala786Ser