Canonical Allele Identifier: CA381652945

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704113G>T (hg19) ; chr11:g.68936645G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936645G>T , CM000673.2:g.68936645G>T	GRCh38
NC_000011.9:g.68704113G>T , CM000673.1:g.68704113G>T	GRCh37
NC_000011.8:g.68460689G>T	NCBI36
NG_007976.1:g.37795G>T , LRG_250:g.37795G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2165G>T MANE Select	ENSP00000255078.4:p.Ser722Ile
ENST00000674675.1:c.409G>T
ENST00000674878.1:c.409G>T
ENST00000674955.1:c.*882G>T	ENSP00000502463.1:n.*882G>T
ENST00000675118.1:c.1653G>T
ENST00000675389.1:n.440G>T
ENST00000675615.1:c.2165G>T	ENSP00000502413.1:p.Ser722Ile
ENST00000675648.1:n.1540G>T
ENST00000675916.1:c.409G>T
ENST00000676173.1:n.2910G>T
ENST00000676182.1:c.596G>T
ENST00000676228.1:c.*1488G>T	ENSP00000502375.1:n.*1488G>T
ENST00000255078.7:c.2165G>T	ENSP00000255078.3:p.Ser722Ile
ENST00000539064.5:n.1924G>T
ENST00000543739.5:n.1158G>T
NM_002180.2:c.2165G>T , LRG_250t1:c.2165G>T	NP_002171.2:p.Ser722Ile
XM_005273974.2:c.1154G>T	XP_005274031.1:p.Ser385Ile
XM_005273975.2:c.1037G>T	XP_005274032.1:p.Ser346Ile
XM_011544994.1:c.932G>T	XP_011543296.1:p.Ser311Ile
XR_949903.1:n.2267G>T
XM_005273975.3:c.1037G>T	XP_005274032.1:p.Ser346Ile
XM_017017669.2:c.1154G>T	XP_016873158.1:p.Ser385Ile
XM_017017670.2:c.1154G>T	XP_016873159.1:p.Ser385Ile
XR_949903.3:n.2263G>T
NM_002180.3:c.2165G>T MANE Select	NP_002171.2:p.Ser722Ile