Canonical Allele Identifier: CA475201786

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1347121473
• MyVariant Identifiers: chr11:g.68701356G>A (hg19) ; chr11:g.68933888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933888G>A , CM000673.2:g.68933888G>A	GRCh38
NC_000011.9:g.68701356G>A , CM000673.1:g.68701356G>A	GRCh37
NC_000011.8:g.68457932G>A	NCBI36
NG_007976.1:g.35038G>A , LRG_250:g.35038G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1512G>A MANE Select	ENSP00000255078.4:p.Glu504=
ENST00000674955.1:c.*229G>A	ENSP00000502463.1:n.*229G>A
ENST00000675118.1:c.1000G>A
ENST00000675205.1:n.183+407G>A
ENST00000675615.1:c.1512G>A	ENSP00000502413.1:p.Glu504=
ENST00000675648.1:n.887G>A
ENST00000675997.1:n.113-576G>A
ENST00000676173.1:n.2257G>A
ENST00000676228.1:c.*835G>A	ENSP00000502375.1:n.*835G>A
ENST00000255078.7:c.1512G>A	ENSP00000255078.3:p.Glu504=
ENST00000537458.5:n.629G>A
ENST00000539064.5:n.1271G>A
ENST00000541229.5:n.207G>A
ENST00000543739.5:n.629G>A
NM_002180.2:c.1512G>A , LRG_250t1:c.1512G>A	NP_002171.2:p.Glu504=
XM_005273974.2:c.501G>A	XP_005274031.1:p.Glu167=
XM_005273975.2:c.384G>A	XP_005274032.1:p.Glu128=
XM_011544994.1:c.279G>A	XP_011543296.1:p.Glu93=
XR_949903.1:n.1614G>A
XM_005273975.3:c.384G>A	XP_005274032.1:p.Glu128=
XM_017017669.2:c.501G>A	XP_016873158.1:p.Glu167=
XM_017017670.2:c.501G>A	XP_016873159.1:p.Glu167=
XM_017017671.2:c.1512G>A	XP_016873160.1:p.Glu504=
XR_949903.3:n.1610G>A
NM_002180.3:c.1512G>A MANE Select	NP_002171.2:p.Glu504=