Canonical Allele Identifier: CA381651869

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703836T>A (hg19) ; chr11:g.68936368T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936368T>A , CM000673.2:g.68936368T>A	GRCh38
NC_000011.9:g.68703836T>A , CM000673.1:g.68703836T>A	GRCh37
NC_000011.8:g.68460412T>A	NCBI36
NG_007976.1:g.37518T>A , LRG_250:g.37518T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1888T>A MANE Select	ENSP00000255078.4:p.Phe630Ile
ENST00000674675.1:c.132T>A
ENST00000674878.1:c.132T>A
ENST00000674955.1:c.*605T>A	ENSP00000502463.1:n.*605T>A
ENST00000675118.1:c.1376T>A
ENST00000675389.1:n.163T>A
ENST00000675615.1:c.1888T>A	ENSP00000502413.1:p.Phe630Ile
ENST00000675648.1:n.1263T>A
ENST00000675916.1:c.132T>A
ENST00000676173.1:n.2633T>A
ENST00000676182.1:c.319T>A
ENST00000676228.1:c.*1211T>A	ENSP00000502375.1:n.*1211T>A
ENST00000255078.7:c.1888T>A	ENSP00000255078.3:p.Phe630Ile
ENST00000539064.5:n.1647T>A
ENST00000543739.5:n.881T>A
ENST00000545475.1:n.484T>A
NM_002180.2:c.1888T>A , LRG_250t1:c.1888T>A	NP_002171.2:p.Phe630Ile
XM_005273974.2:c.877T>A	XP_005274031.1:p.Phe293Ile
XM_005273975.2:c.760T>A	XP_005274032.1:p.Phe254Ile
XM_011544994.1:c.655T>A	XP_011543296.1:p.Phe219Ile
XR_949903.1:n.1990T>A
XM_005273975.3:c.760T>A	XP_005274032.1:p.Phe254Ile
XM_017017669.2:c.877T>A	XP_016873158.1:p.Phe293Ile
XM_017017670.2:c.877T>A	XP_016873159.1:p.Phe293Ile
XR_949903.3:n.1986T>A
NM_002180.3:c.1888T>A MANE Select	NP_002171.2:p.Phe630Ile