Canonical Allele Identifier: CA475201142

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701317G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933849G>T , CM000673.2:g.68933849G>T	GRCh38
NC_000011.9:g.68701317G>T , CM000673.1:g.68701317G>T	GRCh37
NC_000011.8:g.68457893G>T	NCBI36
NG_007976.1:g.34999G>T , LRG_250:g.34999G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1473G>T MANE Select	ENSP00000255078.4:p.Val491=
ENST00000674955.1:c.*190G>T	ENSP00000502463.1:n.*190G>T
ENST00000675118.1:c.961G>T
ENST00000675205.1:n.183+368G>T
ENST00000675615.1:c.1473G>T	ENSP00000502413.1:p.Val491=
ENST00000675648.1:n.848G>T
ENST00000675997.1:n.113-615G>T
ENST00000676173.1:n.2218G>T
ENST00000676228.1:c.*796G>T	ENSP00000502375.1:n.*796G>T
ENST00000255078.7:c.1473G>T	ENSP00000255078.3:p.Val491=
ENST00000537458.5:n.590G>T
ENST00000539064.5:n.1232G>T
ENST00000541229.5:n.168G>T
ENST00000543739.5:n.590G>T
NM_002180.2:c.1473G>T , LRG_250t1:c.1473G>T	NP_002171.2:p.Val491=
XM_005273974.2:c.462G>T	XP_005274031.1:p.Val154=
XM_005273975.2:c.345G>T	XP_005274032.1:p.Val115=
XM_011544994.1:c.240G>T	XP_011543296.1:p.Val80=
XR_949903.1:n.1575G>T
XM_005273975.3:c.345G>T	XP_005274032.1:p.Val115=
XM_017017669.2:c.462G>T	XP_016873158.1:p.Val154=
XM_017017670.2:c.462G>T	XP_016873159.1:p.Val154=
XM_017017671.2:c.1473G>T	XP_016873160.1:p.Val491=
XR_949903.3:n.1571G>T
NM_002180.3:c.1473G>T MANE Select	NP_002171.2:p.Val491=