Canonical Allele Identifier: CA381649886

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701312T>G (hg19) ; chr11:g.68933844T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933844T>G , CM000673.2:g.68933844T>G	GRCh38
NC_000011.9:g.68701312T>G , CM000673.1:g.68701312T>G	GRCh37
NC_000011.8:g.68457888T>G	NCBI36
NG_007976.1:g.34994T>G , LRG_250:g.34994T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1468T>G MANE Select	ENSP00000255078.4:p.Leu490Val
ENST00000674955.1:c.*185T>G	ENSP00000502463.1:n.*185T>G
ENST00000675118.1:c.956T>G
ENST00000675205.1:n.183+363T>G
ENST00000675615.1:c.1468T>G	ENSP00000502413.1:p.Leu490Val
ENST00000675648.1:n.843T>G
ENST00000675997.1:n.113-620T>G
ENST00000676173.1:n.2213T>G
ENST00000676228.1:c.*791T>G	ENSP00000502375.1:n.*791T>G
ENST00000255078.7:c.1468T>G	ENSP00000255078.3:p.Leu490Val
ENST00000537458.5:n.585T>G
ENST00000539064.5:n.1227T>G
ENST00000541229.5:n.163T>G
ENST00000543739.5:n.585T>G
NM_002180.2:c.1468T>G , LRG_250t1:c.1468T>G	NP_002171.2:p.Leu490Val
XM_005273974.2:c.457T>G	XP_005274031.1:p.Leu153Val
XM_005273975.2:c.340T>G	XP_005274032.1:p.Leu114Val
XM_011544994.1:c.235T>G	XP_011543296.1:p.Leu79Val
XR_949903.1:n.1570T>G
XM_005273975.3:c.340T>G	XP_005274032.1:p.Leu114Val
XM_017017669.2:c.457T>G	XP_016873158.1:p.Leu153Val
XM_017017670.2:c.457T>G	XP_016873159.1:p.Leu153Val
XM_017017671.2:c.1468T>G	XP_016873160.1:p.Leu490Val
XR_949903.3:n.1566T>G
NM_002180.3:c.1468T>G MANE Select	NP_002171.2:p.Leu490Val