Canonical Allele Identifier: CA381644340

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68682354A>G (hg19) ; chr11:g.68914886A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914886A>G , CM000673.2:g.68914886A>G	GRCh38
NC_000011.9:g.68682354A>G , CM000673.1:g.68682354A>G	GRCh37
NC_000011.8:g.68438930A>G	NCBI36
NG_007976.1:g.16036A>G , LRG_250:g.16036A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.775A>G MANE Select	ENSP00000255078.4:p.Lys259Glu
ENST00000539224.2:c.904A>G
ENST00000674955.1:c.775A>G	ENSP00000502463.1:p.Lys259Glu
ENST00000675118.1:c.122A>G
ENST00000675119.1:c.64A>G	ENSP00000501861.1:p.Lys22Glu
ENST00000675305.1:c.64A>G	ENSP00000502365.1:p.Lys22Glu
ENST00000675464.1:c.64A>G	ENSP00000502650.1:p.Lys22Glu
ENST00000675615.1:c.775A>G	ENSP00000502413.1:p.Lys259Glu
ENST00000675683.1:c.162A>G
ENST00000676173.1:n.819A>G
ENST00000676228.1:c.*98A>G	ENSP00000502375.1:n.*98A>G
ENST00000676239.1:n.89A>G
ENST00000255078.7:c.775A>G	ENSP00000255078.3:p.Lys259Glu
ENST00000539224.1:c.*98A>G	ENSP00000440465.1:n.*98A>G
NM_002180.2:c.775A>G , LRG_250t1:c.775A>G	NP_002171.2:p.Lys259Glu
XM_005273974.2:c.-237A>G	XP_005274031.1:n.-237A>G
XM_005273976.1:c.775A>G	XP_005274033.1:p.Lys259Glu
XR_247198.1:n.877A>G
XR_949903.1:n.877A>G
XM_005273976.2:c.775A>G	XP_005274033.1:p.Lys259Glu
XM_017017669.2:c.-237A>G	XP_016873158.1:n.-237A>G
XM_017017670.2:c.-237A>G	XP_016873159.1:n.-237A>G
XM_017017671.2:c.775A>G	XP_016873160.1:p.Lys259Glu
XR_949903.3:n.873A>G
NM_002180.3:c.775A>G MANE Select	NP_002171.2:p.Lys259Glu