Canonical Allele Identifier: CA381653820

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704461T>A (hg19) ; chr11:g.68936993T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936993T>A , CM000673.2:g.68936993T>A	GRCh38
NC_000011.9:g.68704461T>A , CM000673.1:g.68704461T>A	GRCh37
NC_000011.8:g.68461037T>A	NCBI36
NG_007976.1:g.38143T>A , LRG_250:g.38143T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2513T>A MANE Select	ENSP00000255078.4:p.Leu838Gln
ENST00000674675.1:c.658T>A
ENST00000674878.1:c.618T>A
ENST00000675118.1:c.2001T>A
ENST00000675389.1:n.788T>A
ENST00000675615.1:c.2513T>A	ENSP00000502413.1:p.Leu838Gln
ENST00000675648.1:n.1888T>A
ENST00000675916.1:c.757T>A
ENST00000676173.1:n.3258T>A
ENST00000676182.1:c.944T>A
ENST00000676228.1:c.*1836T>A	ENSP00000502375.1:n.*1836T>A
ENST00000255078.7:c.2513T>A	ENSP00000255078.3:p.Leu838Gln
ENST00000539064.5:n.2272T>A
ENST00000543739.5:n.1506T>A
NM_002180.2:c.2513T>A , LRG_250t1:c.2513T>A	NP_002171.2:p.Leu838Gln
XM_005273974.2:c.1502T>A	XP_005274031.1:p.Leu501Gln
XM_005273975.2:c.1385T>A	XP_005274032.1:p.Leu462Gln
XM_011544994.1:c.1280T>A	XP_011543296.1:p.Leu427Gln
XR_949903.1:n.2615T>A
XM_005273975.3:c.1385T>A	XP_005274032.1:p.Leu462Gln
XM_017017669.2:c.1502T>A	XP_016873158.1:p.Leu501Gln
XM_017017670.2:c.1502T>A	XP_016873159.1:p.Leu501Gln
XR_949903.3:n.2611T>A
NM_002180.3:c.2513T>A MANE Select	NP_002171.2:p.Leu838Gln