Canonical Allele Identifier: CA475204404

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703877T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936409T>C , CM000673.2:g.68936409T>C	GRCh38
NC_000011.9:g.68703877T>C , CM000673.1:g.68703877T>C	GRCh37
NC_000011.8:g.68460453T>C	NCBI36
NG_007976.1:g.37559T>C , LRG_250:g.37559T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1929T>C MANE Select	ENSP00000255078.4:p.Leu643=
ENST00000674675.1:c.173T>C
ENST00000674878.1:c.173T>C
ENST00000674955.1:c.*646T>C	ENSP00000502463.1:n.*646T>C
ENST00000675118.1:c.1417T>C
ENST00000675389.1:n.204T>C
ENST00000675615.1:c.1929T>C	ENSP00000502413.1:p.Leu643=
ENST00000675648.1:n.1304T>C
ENST00000675916.1:c.173T>C
ENST00000676173.1:n.2674T>C
ENST00000676182.1:c.360T>C
ENST00000676228.1:c.*1252T>C	ENSP00000502375.1:n.*1252T>C
ENST00000255078.7:c.1929T>C	ENSP00000255078.3:p.Leu643=
ENST00000539064.5:n.1688T>C
ENST00000543739.5:n.922T>C
ENST00000545475.1:n.525T>C
NM_002180.2:c.1929T>C , LRG_250t1:c.1929T>C	NP_002171.2:p.Leu643=
XM_005273974.2:c.918T>C	XP_005274031.1:p.Leu306=
XM_005273975.2:c.801T>C	XP_005274032.1:p.Leu267=
XM_011544994.1:c.696T>C	XP_011543296.1:p.Leu232=
XR_949903.1:n.2031T>C
XM_005273975.3:c.801T>C	XP_005274032.1:p.Leu267=
XM_017017669.2:c.918T>C	XP_016873158.1:p.Leu306=
XM_017017670.2:c.918T>C	XP_016873159.1:p.Leu306=
XR_949903.3:n.2027T>C
NM_002180.3:c.1929T>C MANE Select	NP_002171.2:p.Leu643=