Canonical Allele Identifier: CA475204269

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703745G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936277G>T , CM000673.2:g.68936277G>T	GRCh38
NC_000011.9:g.68703745G>T , CM000673.1:g.68703745G>T	GRCh37
NC_000011.8:g.68460321G>T	NCBI36
NG_007976.1:g.37427G>T , LRG_250:g.37427G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1797G>T MANE Select	ENSP00000255078.4:p.Val599=
ENST00000674675.1:c.41G>T
ENST00000674878.1:c.41G>T
ENST00000674955.1:c.*514G>T	ENSP00000502463.1:n.*514G>T
ENST00000675118.1:c.1285G>T
ENST00000675389.1:n.72G>T
ENST00000675615.1:c.1797G>T	ENSP00000502413.1:p.Val599=
ENST00000675648.1:n.1172G>T
ENST00000675916.1:c.41G>T
ENST00000676173.1:n.2542G>T
ENST00000676182.1:c.228G>T
ENST00000676228.1:c.*1120G>T	ENSP00000502375.1:n.*1120G>T
ENST00000255078.7:c.1797G>T	ENSP00000255078.3:p.Val599=
ENST00000539064.5:n.1556G>T
ENST00000541229.5:n.492G>T
ENST00000543739.5:n.790G>T
ENST00000545475.1:n.393G>T
NM_002180.2:c.1797G>T , LRG_250t1:c.1797G>T	NP_002171.2:p.Val599=
XM_005273974.2:c.786G>T	XP_005274031.1:p.Val262=
XM_005273975.2:c.669G>T	XP_005274032.1:p.Val223=
XM_011544994.1:c.564G>T	XP_011543296.1:p.Val188=
XR_949903.1:n.1899G>T
XM_005273975.3:c.669G>T	XP_005274032.1:p.Val223=
XM_017017669.2:c.786G>T	XP_016873158.1:p.Val262=
XM_017017670.2:c.786G>T	XP_016873159.1:p.Val262=
XR_949903.3:n.1895G>T
NM_002180.3:c.1797G>T MANE Select	NP_002171.2:p.Val599=