Canonical Allele Identifier: CA381653728

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704416G>T (hg19) ; chr11:g.68936948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936948G>T , CM000673.2:g.68936948G>T	GRCh38
NC_000011.9:g.68704416G>T , CM000673.1:g.68704416G>T	GRCh37
NC_000011.8:g.68460992G>T	NCBI36
NG_007976.1:g.38098G>T , LRG_250:g.38098G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2468G>T MANE Select	ENSP00000255078.4:p.Arg823Leu
ENST00000674675.1:c.613G>T
ENST00000674878.1:c.573G>T
ENST00000675118.1:c.1956G>T
ENST00000675389.1:n.743G>T
ENST00000675615.1:c.2468G>T	ENSP00000502413.1:p.Arg823Leu
ENST00000675648.1:n.1843G>T
ENST00000675916.1:c.712G>T
ENST00000676173.1:n.3213G>T
ENST00000676182.1:c.899G>T
ENST00000676228.1:c.*1791G>T	ENSP00000502375.1:n.*1791G>T
ENST00000255078.7:c.2468G>T	ENSP00000255078.3:p.Arg823Leu
ENST00000539064.5:n.2227G>T
ENST00000543739.5:n.1461G>T
NM_002180.2:c.2468G>T , LRG_250t1:c.2468G>T	NP_002171.2:p.Arg823Leu
XM_005273974.2:c.1457G>T	XP_005274031.1:p.Arg486Leu
XM_005273975.2:c.1340G>T	XP_005274032.1:p.Arg447Leu
XM_011544994.1:c.1235G>T	XP_011543296.1:p.Arg412Leu
XR_949903.1:n.2570G>T
XM_005273975.3:c.1340G>T	XP_005274032.1:p.Arg447Leu
XM_017017669.2:c.1457G>T	XP_016873158.1:p.Arg486Leu
XM_017017670.2:c.1457G>T	XP_016873159.1:p.Arg486Leu
XR_949903.3:n.2566G>T
NM_002180.3:c.2468G>T MANE Select	NP_002171.2:p.Arg823Leu