Canonical Allele Identifier: CA381651565

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703750T>A (hg19) ; chr11:g.68936282T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936282T>A , CM000673.2:g.68936282T>A	GRCh38
NC_000011.9:g.68703750T>A , CM000673.1:g.68703750T>A	GRCh37
NC_000011.8:g.68460326T>A	NCBI36
NG_007976.1:g.37432T>A , LRG_250:g.37432T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1802T>A MANE Select	ENSP00000255078.4:p.Val601Asp
ENST00000674675.1:c.46T>A
ENST00000674878.1:c.46T>A
ENST00000674955.1:c.*519T>A	ENSP00000502463.1:n.*519T>A
ENST00000675118.1:c.1290T>A
ENST00000675389.1:n.77T>A
ENST00000675615.1:c.1802T>A	ENSP00000502413.1:p.Val601Asp
ENST00000675648.1:n.1177T>A
ENST00000675916.1:c.46T>A
ENST00000676173.1:n.2547T>A
ENST00000676182.1:c.233T>A
ENST00000676228.1:c.*1125T>A	ENSP00000502375.1:n.*1125T>A
ENST00000255078.7:c.1802T>A	ENSP00000255078.3:p.Val601Asp
ENST00000539064.5:n.1561T>A
ENST00000541229.5:n.497T>A
ENST00000543739.5:n.795T>A
ENST00000545475.1:n.398T>A
NM_002180.2:c.1802T>A , LRG_250t1:c.1802T>A	NP_002171.2:p.Val601Asp
XM_005273974.2:c.791T>A	XP_005274031.1:p.Val264Asp
XM_005273975.2:c.674T>A	XP_005274032.1:p.Val225Asp
XM_011544994.1:c.569T>A	XP_011543296.1:p.Val190Asp
XR_949903.1:n.1904T>A
XM_005273975.3:c.674T>A	XP_005274032.1:p.Val225Asp
XM_017017669.2:c.791T>A	XP_016873158.1:p.Val264Asp
XM_017017670.2:c.791T>A	XP_016873159.1:p.Val264Asp
XR_949903.3:n.1900T>A
NM_002180.3:c.1802T>A MANE Select	NP_002171.2:p.Val601Asp