Canonical Allele Identifier: CA381653030

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704154T>G (hg19) ; chr11:g.68936686T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936686T>G , CM000673.2:g.68936686T>G	GRCh38
NC_000011.9:g.68704154T>G , CM000673.1:g.68704154T>G	GRCh37
NC_000011.8:g.68460730T>G	NCBI36
NG_007976.1:g.37836T>G , LRG_250:g.37836T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2206T>G MANE Select	ENSP00000255078.4:p.Phe736Val
ENST00000674675.1:c.450T>G
ENST00000674878.1:c.450T>G
ENST00000674955.1:c.*923T>G	ENSP00000502463.1:n.*923T>G
ENST00000675118.1:c.1694T>G
ENST00000675389.1:n.481T>G
ENST00000675615.1:c.2206T>G	ENSP00000502413.1:p.Phe736Val
ENST00000675648.1:n.1581T>G
ENST00000675916.1:c.450T>G
ENST00000676173.1:n.2951T>G
ENST00000676182.1:c.637T>G
ENST00000676228.1:c.*1529T>G	ENSP00000502375.1:n.*1529T>G
ENST00000255078.7:c.2206T>G	ENSP00000255078.3:p.Phe736Val
ENST00000539064.5:n.1965T>G
ENST00000543739.5:n.1199T>G
NM_002180.2:c.2206T>G , LRG_250t1:c.2206T>G	NP_002171.2:p.Phe736Val
XM_005273974.2:c.1195T>G	XP_005274031.1:p.Phe399Val
XM_005273975.2:c.1078T>G	XP_005274032.1:p.Phe360Val
XM_011544994.1:c.973T>G	XP_011543296.1:p.Phe325Val
XR_949903.1:n.2308T>G
XM_005273975.3:c.1078T>G	XP_005274032.1:p.Phe360Val
XM_017017669.2:c.1195T>G	XP_016873158.1:p.Phe399Val
XM_017017670.2:c.1195T>G	XP_016873159.1:p.Phe399Val
XR_949903.3:n.2304T>G
NM_002180.3:c.2206T>G MANE Select	NP_002171.2:p.Phe736Val