Canonical Allele Identifier: CA381653114

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936720-C-T
• MyVariant Identifiers: chr11:g.68704188C>T (hg19) ; chr11:g.68936720C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936720C>T , CM000673.2:g.68936720C>T	GRCh38
NC_000011.9:g.68704188C>T , CM000673.1:g.68704188C>T	GRCh37
NC_000011.8:g.68460764C>T	NCBI36
NG_007976.1:g.37870C>T , LRG_250:g.37870C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2240C>T MANE Select	ENSP00000255078.4:p.Pro747Leu
ENST00000674675.1:c.484C>T
ENST00000674878.1:c.484C>T
ENST00000674955.1:c.*957C>T	ENSP00000502463.1:n.*957C>T
ENST00000675118.1:c.1728C>T
ENST00000675389.1:n.515C>T
ENST00000675615.1:c.2240C>T	ENSP00000502413.1:p.Pro747Leu
ENST00000675648.1:n.1615C>T
ENST00000675916.1:c.484C>T
ENST00000676173.1:n.2985C>T
ENST00000676182.1:c.671C>T
ENST00000676228.1:c.*1563C>T	ENSP00000502375.1:n.*1563C>T
ENST00000255078.7:c.2240C>T	ENSP00000255078.3:p.Pro747Leu
ENST00000539064.5:n.1999C>T
ENST00000543739.5:n.1233C>T
NM_002180.2:c.2240C>T , LRG_250t1:c.2240C>T	NP_002171.2:p.Pro747Leu
XM_005273974.2:c.1229C>T	XP_005274031.1:p.Pro410Leu
XM_005273975.2:c.1112C>T	XP_005274032.1:p.Pro371Leu
XM_011544994.1:c.1007C>T	XP_011543296.1:p.Pro336Leu
XR_949903.1:n.2342C>T
XM_005273975.3:c.1112C>T	XP_005274032.1:p.Pro371Leu
XM_017017669.2:c.1229C>T	XP_016873158.1:p.Pro410Leu
XM_017017670.2:c.1229C>T	XP_016873159.1:p.Pro410Leu
XR_949903.3:n.2338C>T
NM_002180.3:c.2240C>T MANE Select	NP_002171.2:p.Pro747Leu