Canonical Allele Identifier: CA381644888

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68685280T>G (hg19) ; chr11:g.68917812T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917812T>G , CM000673.2:g.68917812T>G	GRCh38
NC_000011.9:g.68685280T>G , CM000673.1:g.68685280T>G	GRCh37
NC_000011.8:g.68441856T>G	NCBI36
NG_007976.1:g.18962T>G , LRG_250:g.18962T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.989T>G MANE Select	ENSP00000255078.4:p.Leu330Arg
ENST00000674745.1:c.77T>G	ENSP00000502738.1:p.Leu26Arg
ENST00000674775.1:n.77T>G
ENST00000674955.1:c.989T>G	ENSP00000502463.1:p.Leu330Arg
ENST00000675118.1:c.477T>G
ENST00000675119.1:c.416T>G	ENSP00000501861.1:n.416T>G
ENST00000675305.1:c.309T>G	ENSP00000502365.1:n.309T>G
ENST00000675464.1:c.272T>G	ENSP00000502650.1:p.Leu91Arg
ENST00000675493.1:n.77T>G
ENST00000675615.1:c.989T>G	ENSP00000502413.1:p.Leu330Arg
ENST00000675648.1:n.364T>G
ENST00000675683.1:c.376T>G
ENST00000675684.1:c.77T>G	ENSP00000502192.1:p.Leu26Arg
ENST00000676173.1:n.1033T>G
ENST00000676228.1:c.*312T>G	ENSP00000502375.1:n.*312T>G
ENST00000255078.7:c.989T>G	ENSP00000255078.3:p.Leu330Arg
NM_002180.2:c.989T>G , LRG_250t1:c.989T>G	NP_002171.2:p.Leu330Arg
XM_005273974.2:c.-23T>G	XP_005274031.1:n.-23T>G
XM_005273976.1:c.989T>G	XP_005274033.1:p.Leu330Arg
XR_247198.1:n.1091T>G
XR_949903.1:n.1091T>G
XM_005273976.2:c.989T>G	XP_005274033.1:p.Leu330Arg
XM_017017669.2:c.-23T>G	XP_016873158.1:n.-23T>G
XM_017017670.2:c.-23T>G	XP_016873159.1:n.-23T>G
XM_017017671.2:c.989T>G	XP_016873160.1:p.Leu330Arg
XR_949903.3:n.1087T>G
NM_002180.3:c.989T>G MANE Select	NP_002171.2:p.Leu330Arg