Canonical Allele Identifier: CA381651026

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68702780G>A (hg19) ; chr11:g.68935312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68935312G>A , CM000673.2:g.68935312G>A	GRCh38
NC_000011.9:g.68702780G>A , CM000673.1:g.68702780G>A	GRCh37
NC_000011.8:g.68459356G>A	NCBI36
NG_007976.1:g.36462G>A , LRG_250:g.36462G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.1646G>A MANE Select	ENSP00000255078.4:p.Arg549Lys
ENST00000674955.1:c.*363G>A	ENSP00000502463.1:n.*363G>A
ENST00000675118.1:c.1134G>A
ENST00000675615.1:c.1646G>A	ENSP00000502413.1:p.Arg549Lys
ENST00000675648.1:n.1021G>A
ENST00000676173.1:n.2391G>A
ENST00000676182.1:c.96-19G>A
ENST00000676228.1:c.*969G>A	ENSP00000502375.1:n.*969G>A
ENST00000255078.7:c.1646G>A	ENSP00000255078.3:p.Arg549Lys
ENST00000539064.5:n.1405G>A
ENST00000541229.5:n.341G>A
ENST00000543739.5:n.749+754G>A
ENST00000545475.1:n.242G>A
NM_002180.2:c.1646G>A , LRG_250t1:c.1646G>A	NP_002171.2:p.Arg549Lys
XM_005273974.2:c.635G>A	XP_005274031.1:p.Arg212Lys
XM_005273975.2:c.518G>A	XP_005274032.1:p.Arg173Lys
XM_011544994.1:c.413G>A	XP_011543296.1:p.Arg138Lys
XR_949903.1:n.1748G>A
XM_005273975.3:c.518G>A	XP_005274032.1:p.Arg173Lys
XM_017017669.2:c.635G>A	XP_016873158.1:p.Arg212Lys
XM_017017670.2:c.635G>A	XP_016873159.1:p.Arg212Lys
XM_017017671.2:c.1633-19G>A	XP_016873160.1:n.1633-19G>A
XR_949903.3:n.1744G>A
NM_002180.3:c.1646G>A MANE Select	NP_002171.2:p.Arg549Lys