Canonical Allele Identifier: CA381652001

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703870A>C (hg19) ; chr11:g.68936402A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936402A>C , CM000673.2:g.68936402A>C	GRCh38
NC_000011.9:g.68703870A>C , CM000673.1:g.68703870A>C	GRCh37
NC_000011.8:g.68460446A>C	NCBI36
NG_007976.1:g.37552A>C , LRG_250:g.37552A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1922A>C MANE Select	ENSP00000255078.4:p.Glu641Ala
ENST00000674675.1:c.166A>C
ENST00000674878.1:c.166A>C
ENST00000674955.1:c.*639A>C	ENSP00000502463.1:n.*639A>C
ENST00000675118.1:c.1410A>C
ENST00000675389.1:n.197A>C
ENST00000675615.1:c.1922A>C	ENSP00000502413.1:p.Glu641Ala
ENST00000675648.1:n.1297A>C
ENST00000675916.1:c.166A>C
ENST00000676173.1:n.2667A>C
ENST00000676182.1:c.353A>C
ENST00000676228.1:c.*1245A>C	ENSP00000502375.1:n.*1245A>C
ENST00000255078.7:c.1922A>C	ENSP00000255078.3:p.Glu641Ala
ENST00000539064.5:n.1681A>C
ENST00000543739.5:n.915A>C
ENST00000545475.1:n.518A>C
NM_002180.2:c.1922A>C , LRG_250t1:c.1922A>C	NP_002171.2:p.Glu641Ala
XM_005273974.2:c.911A>C	XP_005274031.1:p.Glu304Ala
XM_005273975.2:c.794A>C	XP_005274032.1:p.Glu265Ala
XM_011544994.1:c.689A>C	XP_011543296.1:p.Glu230Ala
XR_949903.1:n.2024A>C
XM_005273975.3:c.794A>C	XP_005274032.1:p.Glu265Ala
XM_017017669.2:c.911A>C	XP_016873158.1:p.Glu304Ala
XM_017017670.2:c.911A>C	XP_016873159.1:p.Glu304Ala
XR_949903.3:n.2020A>C
NM_002180.3:c.1922A>C MANE Select	NP_002171.2:p.Glu641Ala