Canonical Allele Identifier: CA381650085

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701336C>A (hg19) ; chr11:g.68933868C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933868C>A , CM000673.2:g.68933868C>A	GRCh38
NC_000011.9:g.68701336C>A , CM000673.1:g.68701336C>A	GRCh37
NC_000011.8:g.68457912C>A	NCBI36
NG_007976.1:g.35018C>A , LRG_250:g.35018C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1492C>A MANE Select	ENSP00000255078.4:p.Leu498Met
ENST00000674955.1:c.*209C>A	ENSP00000502463.1:n.*209C>A
ENST00000675118.1:c.980C>A
ENST00000675205.1:n.183+387C>A
ENST00000675615.1:c.1492C>A	ENSP00000502413.1:p.Leu498Met
ENST00000675648.1:n.867C>A
ENST00000675997.1:n.113-596C>A
ENST00000676173.1:n.2237C>A
ENST00000676228.1:c.*815C>A	ENSP00000502375.1:n.*815C>A
ENST00000255078.7:c.1492C>A	ENSP00000255078.3:p.Leu498Met
ENST00000537458.5:n.609C>A
ENST00000539064.5:n.1251C>A
ENST00000541229.5:n.187C>A
ENST00000543739.5:n.609C>A
NM_002180.2:c.1492C>A , LRG_250t1:c.1492C>A	NP_002171.2:p.Leu498Met
XM_005273974.2:c.481C>A	XP_005274031.1:p.Leu161Met
XM_005273975.2:c.364C>A	XP_005274032.1:p.Leu122Met
XM_011544994.1:c.259C>A	XP_011543296.1:p.Leu87Met
XR_949903.1:n.1594C>A
XM_005273975.3:c.364C>A	XP_005274032.1:p.Leu122Met
XM_017017669.2:c.481C>A	XP_016873158.1:p.Leu161Met
XM_017017670.2:c.481C>A	XP_016873159.1:p.Leu161Met
XM_017017671.2:c.1492C>A	XP_016873160.1:p.Leu498Met
XR_949903.3:n.1590C>A
NM_002180.3:c.1492C>A MANE Select	NP_002171.2:p.Leu498Met