Canonical Allele Identifier: CA381650036

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701331G>A (hg19) ; chr11:g.68933863G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933863G>A , CM000673.2:g.68933863G>A	GRCh38
NC_000011.9:g.68701331G>A , CM000673.1:g.68701331G>A	GRCh37
NC_000011.8:g.68457907G>A	NCBI36
NG_007976.1:g.35013G>A , LRG_250:g.35013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1487G>A MANE Select	ENSP00000255078.4:p.Cys496Tyr
ENST00000674955.1:c.*204G>A	ENSP00000502463.1:n.*204G>A
ENST00000675118.1:c.975G>A
ENST00000675205.1:n.183+382G>A
ENST00000675615.1:c.1487G>A	ENSP00000502413.1:p.Cys496Tyr
ENST00000675648.1:n.862G>A
ENST00000675997.1:n.113-601G>A
ENST00000676173.1:n.2232G>A
ENST00000676228.1:c.*810G>A	ENSP00000502375.1:n.*810G>A
ENST00000255078.7:c.1487G>A	ENSP00000255078.3:p.Cys496Tyr
ENST00000537458.5:n.604G>A
ENST00000539064.5:n.1246G>A
ENST00000541229.5:n.182G>A
ENST00000543739.5:n.604G>A
NM_002180.2:c.1487G>A , LRG_250t1:c.1487G>A	NP_002171.2:p.Cys496Tyr
XM_005273974.2:c.476G>A	XP_005274031.1:p.Cys159Tyr
XM_005273975.2:c.359G>A	XP_005274032.1:p.Cys120Tyr
XM_011544994.1:c.254G>A	XP_011543296.1:p.Cys85Tyr
XR_949903.1:n.1589G>A
XM_005273975.3:c.359G>A	XP_005274032.1:p.Cys120Tyr
XM_017017669.2:c.476G>A	XP_016873158.1:p.Cys159Tyr
XM_017017670.2:c.476G>A	XP_016873159.1:p.Cys159Tyr
XM_017017671.2:c.1487G>A	XP_016873160.1:p.Cys496Tyr
XR_949903.3:n.1585G>A
NM_002180.3:c.1487G>A MANE Select	NP_002171.2:p.Cys496Tyr