Canonical Allele Identifier: CA223413294

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1027221104
• MyVariant Identifiers: chr11:g.68704020G>T (hg19) ; chr11:g.68936552G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936552G>T , CM000673.2:g.68936552G>T	GRCh38
NC_000011.9:g.68704020G>T , CM000673.1:g.68704020G>T	GRCh37
NC_000011.8:g.68460596G>T	NCBI36
NG_007976.1:g.37702G>T , LRG_250:g.37702G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2072G>T MANE Select	ENSP00000255078.4:p.Arg691Ile
ENST00000674675.1:c.316G>T
ENST00000674878.1:c.316G>T
ENST00000674955.1:c.*789G>T	ENSP00000502463.1:n.*789G>T
ENST00000675118.1:c.1560G>T
ENST00000675389.1:n.347G>T
ENST00000675615.1:c.2072G>T	ENSP00000502413.1:p.Arg691Ile
ENST00000675648.1:n.1447G>T
ENST00000675916.1:c.316G>T
ENST00000676173.1:n.2817G>T
ENST00000676182.1:c.503G>T
ENST00000676228.1:c.*1395G>T	ENSP00000502375.1:n.*1395G>T
ENST00000255078.7:c.2072G>T	ENSP00000255078.3:p.Arg691Ile
ENST00000539064.5:n.1831G>T
ENST00000543739.5:n.1065G>T
NM_002180.2:c.2072G>T , LRG_250t1:c.2072G>T	NP_002171.2:p.Arg691Ile
XM_005273974.2:c.1061G>T	XP_005274031.1:p.Arg354Ile
XM_005273975.2:c.944G>T	XP_005274032.1:p.Arg315Ile
XM_011544994.1:c.839G>T	XP_011543296.1:p.Arg280Ile
XR_949903.1:n.2174G>T
XM_005273975.3:c.944G>T	XP_005274032.1:p.Arg315Ile
XM_017017669.2:c.1061G>T	XP_016873158.1:p.Arg354Ile
XM_017017670.2:c.1061G>T	XP_016873159.1:p.Arg354Ile
XR_949903.3:n.2170G>T
NM_002180.3:c.2072G>T MANE Select	NP_002171.2:p.Arg691Ile