Canonical Allele Identifier: CA223413433

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs139134618
• MyVariant Identifiers: chr11:g.68704095G>T (hg19) ; chr11:g.68936627G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936627G>T , CM000673.2:g.68936627G>T	GRCh38
NC_000011.9:g.68704095G>T , CM000673.1:g.68704095G>T	GRCh37
NC_000011.8:g.68460671G>T	NCBI36
NG_007976.1:g.37777G>T , LRG_250:g.37777G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2147G>T MANE Select	ENSP00000255078.4:p.Ser716Ile
ENST00000674675.1:c.391G>T
ENST00000674878.1:c.391G>T
ENST00000674955.1:c.*864G>T	ENSP00000502463.1:n.*864G>T
ENST00000675118.1:c.1635G>T
ENST00000675389.1:n.422G>T
ENST00000675615.1:c.2147G>T	ENSP00000502413.1:p.Ser716Ile
ENST00000675648.1:n.1522G>T
ENST00000675916.1:c.391G>T
ENST00000676173.1:n.2892G>T
ENST00000676182.1:c.578G>T
ENST00000676228.1:c.*1470G>T	ENSP00000502375.1:n.*1470G>T
ENST00000255078.7:c.2147G>T	ENSP00000255078.3:p.Ser716Ile
ENST00000539064.5:n.1906G>T
ENST00000543739.5:n.1140G>T
NM_002180.2:c.2147G>T , LRG_250t1:c.2147G>T	NP_002171.2:p.Ser716Ile
XM_005273974.2:c.1136G>T	XP_005274031.1:p.Ser379Ile
XM_005273975.2:c.1019G>T	XP_005274032.1:p.Ser340Ile
XM_011544994.1:c.914G>T	XP_011543296.1:p.Ser305Ile
XR_949903.1:n.2249G>T
XM_005273975.3:c.1019G>T	XP_005274032.1:p.Ser340Ile
XM_017017669.2:c.1136G>T	XP_016873158.1:p.Ser379Ile
XM_017017670.2:c.1136G>T	XP_016873159.1:p.Ser379Ile
XR_949903.3:n.2245G>T
NM_002180.3:c.2147G>T MANE Select	NP_002171.2:p.Ser716Ile