Canonical Allele Identifier: CA381653690

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704401C>G (hg19) ; chr11:g.68936933C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936933C>G , CM000673.2:g.68936933C>G	GRCh38
NC_000011.9:g.68704401C>G , CM000673.1:g.68704401C>G	GRCh37
NC_000011.8:g.68460977C>G	NCBI36
NG_007976.1:g.38083C>G , LRG_250:g.38083C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2453C>G MANE Select	ENSP00000255078.4:p.Pro818Arg
ENST00000674675.1:c.598C>G
ENST00000674878.1:c.558C>G
ENST00000675118.1:c.1941C>G
ENST00000675389.1:n.728C>G
ENST00000675615.1:c.2453C>G	ENSP00000502413.1:p.Pro818Arg
ENST00000675648.1:n.1828C>G
ENST00000675916.1:c.697C>G
ENST00000676173.1:n.3198C>G
ENST00000676182.1:c.884C>G
ENST00000676228.1:c.*1776C>G	ENSP00000502375.1:n.*1776C>G
ENST00000255078.7:c.2453C>G	ENSP00000255078.3:p.Pro818Arg
ENST00000539064.5:n.2212C>G
ENST00000543739.5:n.1446C>G
NM_002180.2:c.2453C>G , LRG_250t1:c.2453C>G	NP_002171.2:p.Pro818Arg
XM_005273974.2:c.1442C>G	XP_005274031.1:p.Pro481Arg
XM_005273975.2:c.1325C>G	XP_005274032.1:p.Pro442Arg
XM_011544994.1:c.1220C>G	XP_011543296.1:p.Pro407Arg
XR_949903.1:n.2555C>G
XM_005273975.3:c.1325C>G	XP_005274032.1:p.Pro442Arg
XM_017017669.2:c.1442C>G	XP_016873158.1:p.Pro481Arg
XM_017017670.2:c.1442C>G	XP_016873159.1:p.Pro481Arg
XR_949903.3:n.2551C>G
NM_002180.3:c.2453C>G MANE Select	NP_002171.2:p.Pro818Arg