Canonical Allele Identifier: CA381653008

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1859545412
• MyVariant Identifiers: chr11:g.68704145A>T (hg19) ; chr11:g.68936677A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936677A>T , CM000673.2:g.68936677A>T	GRCh38
NC_000011.9:g.68704145A>T , CM000673.1:g.68704145A>T	GRCh37
NC_000011.8:g.68460721A>T	NCBI36
NG_007976.1:g.37827A>T , LRG_250:g.37827A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2197A>T MANE Select	ENSP00000255078.4:p.Ile733Leu
ENST00000674675.1:c.441A>T
ENST00000674878.1:c.441A>T
ENST00000674955.1:c.*914A>T	ENSP00000502463.1:n.*914A>T
ENST00000675118.1:c.1685A>T
ENST00000675389.1:n.472A>T
ENST00000675615.1:c.2197A>T	ENSP00000502413.1:p.Ile733Leu
ENST00000675648.1:n.1572A>T
ENST00000675916.1:c.441A>T
ENST00000676173.1:n.2942A>T
ENST00000676182.1:c.628A>T
ENST00000676228.1:c.*1520A>T	ENSP00000502375.1:n.*1520A>T
ENST00000255078.7:c.2197A>T	ENSP00000255078.3:p.Ile733Leu
ENST00000539064.5:n.1956A>T
ENST00000543739.5:n.1190A>T
NM_002180.2:c.2197A>T , LRG_250t1:c.2197A>T	NP_002171.2:p.Ile733Leu
XM_005273974.2:c.1186A>T	XP_005274031.1:p.Ile396Leu
XM_005273975.2:c.1069A>T	XP_005274032.1:p.Ile357Leu
XM_011544994.1:c.964A>T	XP_011543296.1:p.Ile322Leu
XR_949903.1:n.2299A>T
XM_005273975.3:c.1069A>T	XP_005274032.1:p.Ile357Leu
XM_017017669.2:c.1186A>T	XP_016873158.1:p.Ile396Leu
XM_017017670.2:c.1186A>T	XP_016873159.1:p.Ile396Leu
XR_949903.3:n.2295A>T
NM_002180.3:c.2197A>T MANE Select	NP_002171.2:p.Ile733Leu