Canonical Allele Identifier: CA381652888

Gene: IGHMBP2

Linked Data

• COSMIC: COSM5820671
• MyVariant Identifiers: chr11:g.68704088G>T (hg19) ; chr11:g.68936620G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936620G>T , CM000673.2:g.68936620G>T	GRCh38
NC_000011.9:g.68704088G>T , CM000673.1:g.68704088G>T	GRCh37
NC_000011.8:g.68460664G>T	NCBI36
NG_007976.1:g.37770G>T , LRG_250:g.37770G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2140G>T MANE Select	ENSP00000255078.4:p.Gly714Ter
ENST00000674675.1:c.384G>T
ENST00000674878.1:c.384G>T
ENST00000674955.1:c.*857G>T	ENSP00000502463.1:n.*857G>T
ENST00000675118.1:c.1628G>T
ENST00000675389.1:n.415G>T
ENST00000675615.1:c.2140G>T	ENSP00000502413.1:p.Gly714Ter
ENST00000675648.1:n.1515G>T
ENST00000675916.1:c.384G>T
ENST00000676173.1:n.2885G>T
ENST00000676182.1:c.571G>T
ENST00000676228.1:c.*1463G>T	ENSP00000502375.1:n.*1463G>T
ENST00000255078.7:c.2140G>T	ENSP00000255078.3:p.Gly714Ter
ENST00000539064.5:n.1899G>T
ENST00000543739.5:n.1133G>T
NM_002180.2:c.2140G>T , LRG_250t1:c.2140G>T	NP_002171.2:p.Gly714Ter
XM_005273974.2:c.1129G>T	XP_005274031.1:p.Gly377Ter
XM_005273975.2:c.1012G>T	XP_005274032.1:p.Gly338Ter
XM_011544994.1:c.907G>T	XP_011543296.1:p.Gly303Ter
XR_949903.1:n.2242G>T
XM_005273975.3:c.1012G>T	XP_005274032.1:p.Gly338Ter
XM_017017669.2:c.1129G>T	XP_016873158.1:p.Gly377Ter
XM_017017670.2:c.1129G>T	XP_016873159.1:p.Gly377Ter
XR_949903.3:n.2238G>T
NM_002180.3:c.2140G>T MANE Select	NP_002171.2:p.Gly714Ter