Canonical Allele Identifier: CA381651492

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703717T>A (hg19) ; chr11:g.68936249T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936249T>A , CM000673.2:g.68936249T>A	GRCh38
NC_000011.9:g.68703717T>A , CM000673.1:g.68703717T>A	GRCh37
NC_000011.8:g.68460293T>A	NCBI36
NG_007976.1:g.37399T>A , LRG_250:g.37399T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1769T>A MANE Select	ENSP00000255078.4:p.Phe590Tyr
ENST00000674675.1:c.13T>A
ENST00000674878.1:c.13T>A
ENST00000674955.1:c.*486T>A	ENSP00000502463.1:n.*486T>A
ENST00000675118.1:c.1257T>A
ENST00000675389.1:n.44T>A
ENST00000675615.1:c.1769T>A	ENSP00000502413.1:p.Phe590Tyr
ENST00000675648.1:n.1144T>A
ENST00000675916.1:c.13T>A
ENST00000676173.1:n.2514T>A
ENST00000676182.1:c.200T>A
ENST00000676228.1:c.*1092T>A	ENSP00000502375.1:n.*1092T>A
ENST00000255078.7:c.1769T>A	ENSP00000255078.3:p.Phe590Tyr
ENST00000539064.5:n.1528T>A
ENST00000541229.5:n.464T>A
ENST00000543739.5:n.762T>A
ENST00000545475.1:n.365T>A
NM_002180.2:c.1769T>A , LRG_250t1:c.1769T>A	NP_002171.2:p.Phe590Tyr
XM_005273974.2:c.758T>A	XP_005274031.1:p.Phe253Tyr
XM_005273975.2:c.641T>A	XP_005274032.1:p.Phe214Tyr
XM_011544994.1:c.536T>A	XP_011543296.1:p.Phe179Tyr
XR_949903.1:n.1871T>A
XM_005273975.3:c.641T>A	XP_005274032.1:p.Phe214Tyr
XM_017017669.2:c.758T>A	XP_016873158.1:p.Phe253Tyr
XM_017017670.2:c.758T>A	XP_016873159.1:p.Phe253Tyr
XR_949903.3:n.1867T>A
NM_002180.3:c.1769T>A MANE Select	NP_002171.2:p.Phe590Tyr