Canonical Allele Identifier: CA381653724

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704414G>T (hg19) ; chr11:g.68936946G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936946G>T , CM000673.2:g.68936946G>T	GRCh38
NC_000011.9:g.68704414G>T , CM000673.1:g.68704414G>T	GRCh37
NC_000011.8:g.68460990G>T	NCBI36
NG_007976.1:g.38096G>T , LRG_250:g.38096G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2466G>T MANE Select	ENSP00000255078.4:p.Gln822His
ENST00000674675.1:c.611G>T
ENST00000674878.1:c.571G>T
ENST00000675118.1:c.1954G>T
ENST00000675389.1:n.741G>T
ENST00000675615.1:c.2466G>T	ENSP00000502413.1:p.Gln822His
ENST00000675648.1:n.1841G>T
ENST00000675916.1:c.710G>T
ENST00000676173.1:n.3211G>T
ENST00000676182.1:c.897G>T
ENST00000676228.1:c.*1789G>T	ENSP00000502375.1:n.*1789G>T
ENST00000255078.7:c.2466G>T	ENSP00000255078.3:p.Gln822His
ENST00000539064.5:n.2225G>T
ENST00000543739.5:n.1459G>T
NM_002180.2:c.2466G>T , LRG_250t1:c.2466G>T	NP_002171.2:p.Gln822His
XM_005273974.2:c.1455G>T	XP_005274031.1:p.Gln485His
XM_005273975.2:c.1338G>T	XP_005274032.1:p.Gln446His
XM_011544994.1:c.1233G>T	XP_011543296.1:p.Gln411His
XR_949903.1:n.2568G>T
XM_005273975.3:c.1338G>T	XP_005274032.1:p.Gln446His
XM_017017669.2:c.1455G>T	XP_016873158.1:p.Gln485His
XM_017017670.2:c.1455G>T	XP_016873159.1:p.Gln485His
XR_949903.3:n.2564G>T
NM_002180.3:c.2466G>T MANE Select	NP_002171.2:p.Gln822His