Canonical Allele Identifier: CA381653907

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68937019-C-T
• MyVariant Identifiers: chr11:g.68704487C>T (hg19) ; chr11:g.68937019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68937019C>T , CM000673.2:g.68937019C>T	GRCh38
NC_000011.9:g.68704487C>T , CM000673.1:g.68704487C>T	GRCh37
NC_000011.8:g.68461063C>T	NCBI36
NG_007976.1:g.38169C>T , LRG_250:g.38169C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2539C>T MANE Select	ENSP00000255078.4:p.Gln847Ter
ENST00000674675.1:c.684C>T
ENST00000674878.1:c.644C>T
ENST00000675118.1:c.2027C>T
ENST00000675389.1:n.814C>T
ENST00000675615.1:c.2539C>T	ENSP00000502413.1:p.Gln847Ter
ENST00000675648.1:n.1914C>T
ENST00000675916.1:c.783C>T
ENST00000676173.1:n.3284C>T
ENST00000676182.1:c.970C>T
ENST00000676228.1:c.*1862C>T	ENSP00000502375.1:n.*1862C>T
ENST00000255078.7:c.2539C>T	ENSP00000255078.3:p.Gln847Ter
ENST00000539064.5:n.2298C>T
ENST00000543739.5:n.1532C>T
NM_002180.2:c.2539C>T , LRG_250t1:c.2539C>T	NP_002171.2:p.Gln847Ter
XM_005273974.2:c.1528C>T	XP_005274031.1:p.Gln510Ter
XM_005273975.2:c.1411C>T	XP_005274032.1:p.Gln471Ter
XM_011544994.1:c.1306C>T	XP_011543296.1:p.Gln436Ter
XR_949903.1:n.2641C>T
XM_005273975.3:c.1411C>T	XP_005274032.1:p.Gln471Ter
XM_017017669.2:c.1528C>T	XP_016873158.1:p.Gln510Ter
XM_017017670.2:c.1528C>T	XP_016873159.1:p.Gln510Ter
XR_949903.3:n.2637C>T
NM_002180.3:c.2539C>T MANE Select	NP_002171.2:p.Gln847Ter