Canonical Allele Identifier: CA381652731

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704010G>A (hg19) ; chr11:g.68936542G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936542G>A , CM000673.2:g.68936542G>A	GRCh38
NC_000011.9:g.68704010G>A , CM000673.1:g.68704010G>A	GRCh37
NC_000011.8:g.68460586G>A	NCBI36
NG_007976.1:g.37692G>A , LRG_250:g.37692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2062G>A MANE Select	ENSP00000255078.4:p.Ala688Thr
ENST00000674675.1:c.306G>A
ENST00000674878.1:c.306G>A
ENST00000674955.1:c.*779G>A	ENSP00000502463.1:n.*779G>A
ENST00000675118.1:c.1550G>A
ENST00000675389.1:n.337G>A
ENST00000675615.1:c.2062G>A	ENSP00000502413.1:p.Ala688Thr
ENST00000675648.1:n.1437G>A
ENST00000675916.1:c.306G>A
ENST00000676173.1:n.2807G>A
ENST00000676182.1:c.493G>A
ENST00000676228.1:c.*1385G>A	ENSP00000502375.1:n.*1385G>A
ENST00000255078.7:c.2062G>A	ENSP00000255078.3:p.Ala688Thr
ENST00000539064.5:n.1821G>A
ENST00000543739.5:n.1055G>A
NM_002180.2:c.2062G>A , LRG_250t1:c.2062G>A	NP_002171.2:p.Ala688Thr
XM_005273974.2:c.1051G>A	XP_005274031.1:p.Ala351Thr
XM_005273975.2:c.934G>A	XP_005274032.1:p.Ala312Thr
XM_011544994.1:c.829G>A	XP_011543296.1:p.Ala277Thr
XR_949903.1:n.2164G>A
XM_005273975.3:c.934G>A	XP_005274032.1:p.Ala312Thr
XM_017017669.2:c.1051G>A	XP_016873158.1:p.Ala351Thr
XM_017017670.2:c.1051G>A	XP_016873159.1:p.Ala351Thr
XR_949903.3:n.2160G>A
NM_002180.3:c.2062G>A MANE Select	NP_002171.2:p.Ala688Thr