Canonical Allele Identifier: CA381652861

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704075G>T (hg19) ; chr11:g.68936607G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936607G>T , CM000673.2:g.68936607G>T	GRCh38
NC_000011.9:g.68704075G>T , CM000673.1:g.68704075G>T	GRCh37
NC_000011.8:g.68460651G>T	NCBI36
NG_007976.1:g.37757G>T , LRG_250:g.37757G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2127G>T MANE Select	ENSP00000255078.4:p.Gln709His
ENST00000674675.1:c.371G>T
ENST00000674878.1:c.371G>T
ENST00000674955.1:c.*844G>T	ENSP00000502463.1:n.*844G>T
ENST00000675118.1:c.1615G>T
ENST00000675389.1:n.402G>T
ENST00000675615.1:c.2127G>T	ENSP00000502413.1:p.Gln709His
ENST00000675648.1:n.1502G>T
ENST00000675916.1:c.371G>T
ENST00000676173.1:n.2872G>T
ENST00000676182.1:c.558G>T
ENST00000676228.1:c.*1450G>T	ENSP00000502375.1:n.*1450G>T
ENST00000255078.7:c.2127G>T	ENSP00000255078.3:p.Gln709His
ENST00000539064.5:n.1886G>T
ENST00000543739.5:n.1120G>T
NM_002180.2:c.2127G>T , LRG_250t1:c.2127G>T	NP_002171.2:p.Gln709His
XM_005273974.2:c.1116G>T	XP_005274031.1:p.Gln372His
XM_005273975.2:c.999G>T	XP_005274032.1:p.Gln333His
XM_011544994.1:c.894G>T	XP_011543296.1:p.Gln298His
XR_949903.1:n.2229G>T
XM_005273975.3:c.999G>T	XP_005274032.1:p.Gln333His
XM_017017669.2:c.1116G>T	XP_016873158.1:p.Gln372His
XM_017017670.2:c.1116G>T	XP_016873159.1:p.Gln372His
XR_949903.3:n.2225G>T
NM_002180.3:c.2127G>T MANE Select	NP_002171.2:p.Gln709His