Canonical Allele Identifier: CA381649605

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701267C>A (hg19) ; chr11:g.68933799C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933799C>A , CM000673.2:g.68933799C>A	GRCh38
NC_000011.9:g.68701267C>A , CM000673.1:g.68701267C>A	GRCh37
NC_000011.8:g.68457843C>A	NCBI36
NG_007976.1:g.34949C>A , LRG_250:g.34949C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1423C>A MANE Select	ENSP00000255078.4:p.Leu475Ile
ENST00000674955.1:c.*140C>A	ENSP00000502463.1:n.*140C>A
ENST00000675118.1:c.911C>A
ENST00000675205.1:n.183+318C>A
ENST00000675615.1:c.1423C>A	ENSP00000502413.1:p.Leu475Ile
ENST00000675648.1:n.798C>A
ENST00000675997.1:n.113-665C>A
ENST00000676173.1:n.2168C>A
ENST00000676228.1:c.*746C>A	ENSP00000502375.1:n.*746C>A
ENST00000255078.7:c.1423C>A	ENSP00000255078.3:p.Leu475Ile
ENST00000537458.5:n.540C>A
ENST00000539064.5:n.1182C>A
ENST00000541229.5:n.118C>A
ENST00000543739.5:n.540C>A
NM_002180.2:c.1423C>A , LRG_250t1:c.1423C>A	NP_002171.2:p.Leu475Ile
XM_005273974.2:c.412C>A	XP_005274031.1:p.Leu138Ile
XM_005273975.2:c.295C>A	XP_005274032.1:p.Leu99Ile
XM_011544994.1:c.190C>A	XP_011543296.1:p.Leu64Ile
XR_949903.1:n.1525C>A
XM_005273975.3:c.295C>A	XP_005274032.1:p.Leu99Ile
XM_017017669.2:c.412C>A	XP_016873158.1:p.Leu138Ile
XM_017017670.2:c.412C>A	XP_016873159.1:p.Leu138Ile
XM_017017671.2:c.1423C>A	XP_016873160.1:p.Leu475Ile
XR_949903.3:n.1521C>A
NM_002180.3:c.1423C>A MANE Select	NP_002171.2:p.Leu475Ile