Canonical Allele Identifier: CA381652025

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703875C>A (hg19) ; chr11:g.68936407C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936407C>A , CM000673.2:g.68936407C>A	GRCh38
NC_000011.9:g.68703875C>A , CM000673.1:g.68703875C>A	GRCh37
NC_000011.8:g.68460451C>A	NCBI36
NG_007976.1:g.37557C>A , LRG_250:g.37557C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1927C>A MANE Select	ENSP00000255078.4:p.Leu643Ile
ENST00000674675.1:c.171C>A
ENST00000674878.1:c.171C>A
ENST00000674955.1:c.*644C>A	ENSP00000502463.1:n.*644C>A
ENST00000675118.1:c.1415C>A
ENST00000675389.1:n.202C>A
ENST00000675615.1:c.1927C>A	ENSP00000502413.1:p.Leu643Ile
ENST00000675648.1:n.1302C>A
ENST00000675916.1:c.171C>A
ENST00000676173.1:n.2672C>A
ENST00000676182.1:c.358C>A
ENST00000676228.1:c.*1250C>A	ENSP00000502375.1:n.*1250C>A
ENST00000255078.7:c.1927C>A	ENSP00000255078.3:p.Leu643Ile
ENST00000539064.5:n.1686C>A
ENST00000543739.5:n.920C>A
ENST00000545475.1:n.523C>A
NM_002180.2:c.1927C>A , LRG_250t1:c.1927C>A	NP_002171.2:p.Leu643Ile
XM_005273974.2:c.916C>A	XP_005274031.1:p.Leu306Ile
XM_005273975.2:c.799C>A	XP_005274032.1:p.Leu267Ile
XM_011544994.1:c.694C>A	XP_011543296.1:p.Leu232Ile
XR_949903.1:n.2029C>A
XM_005273975.3:c.799C>A	XP_005274032.1:p.Leu267Ile
XM_017017669.2:c.916C>A	XP_016873158.1:p.Leu306Ile
XM_017017670.2:c.916C>A	XP_016873159.1:p.Leu306Ile
XR_949903.3:n.2025C>A
NM_002180.3:c.1927C>A MANE Select	NP_002171.2:p.Leu643Ile