Canonical Allele Identifier: CA475204281

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703751C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936283C>G , CM000673.2:g.68936283C>G	GRCh38
NC_000011.9:g.68703751C>G , CM000673.1:g.68703751C>G	GRCh37
NC_000011.8:g.68460327C>G	NCBI36
NG_007976.1:g.37433C>G , LRG_250:g.37433C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1803C>G MANE Select	ENSP00000255078.4:p.Val601=
ENST00000674675.1:c.47C>G
ENST00000674878.1:c.47C>G
ENST00000674955.1:c.*520C>G	ENSP00000502463.1:n.*520C>G
ENST00000675118.1:c.1291C>G
ENST00000675389.1:n.78C>G
ENST00000675615.1:c.1803C>G	ENSP00000502413.1:p.Val601=
ENST00000675648.1:n.1178C>G
ENST00000675916.1:c.47C>G
ENST00000676173.1:n.2548C>G
ENST00000676182.1:c.234C>G
ENST00000676228.1:c.*1126C>G	ENSP00000502375.1:n.*1126C>G
ENST00000255078.7:c.1803C>G	ENSP00000255078.3:p.Val601=
ENST00000539064.5:n.1562C>G
ENST00000541229.5:n.498C>G
ENST00000543739.5:n.796C>G
ENST00000545475.1:n.399C>G
NM_002180.2:c.1803C>G , LRG_250t1:c.1803C>G	NP_002171.2:p.Val601=
XM_005273974.2:c.792C>G	XP_005274031.1:p.Val264=
XM_005273975.2:c.675C>G	XP_005274032.1:p.Val225=
XM_011544994.1:c.570C>G	XP_011543296.1:p.Val190=
XR_949903.1:n.1905C>G
XM_005273975.3:c.675C>G	XP_005274032.1:p.Val225=
XM_017017669.2:c.792C>G	XP_016873158.1:p.Val264=
XM_017017670.2:c.792C>G	XP_016873159.1:p.Val264=
XR_949903.3:n.1901C>G
NM_002180.3:c.1803C>G MANE Select	NP_002171.2:p.Val601=