Canonical Allele Identifier: CA381653696

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704404C>G (hg19) ; chr11:g.68936936C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936936C>G , CM000673.2:g.68936936C>G	GRCh38
NC_000011.9:g.68704404C>G , CM000673.1:g.68704404C>G	GRCh37
NC_000011.8:g.68460980C>G	NCBI36
NG_007976.1:g.38086C>G , LRG_250:g.38086C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2456C>G MANE Select	ENSP00000255078.4:p.Pro819Arg
ENST00000674675.1:c.601C>G
ENST00000674878.1:c.561C>G
ENST00000675118.1:c.1944C>G
ENST00000675389.1:n.731C>G
ENST00000675615.1:c.2456C>G	ENSP00000502413.1:p.Pro819Arg
ENST00000675648.1:n.1831C>G
ENST00000675916.1:c.700C>G
ENST00000676173.1:n.3201C>G
ENST00000676182.1:c.887C>G
ENST00000676228.1:c.*1779C>G	ENSP00000502375.1:n.*1779C>G
ENST00000255078.7:c.2456C>G	ENSP00000255078.3:p.Pro819Arg
ENST00000539064.5:n.2215C>G
ENST00000543739.5:n.1449C>G
NM_002180.2:c.2456C>G , LRG_250t1:c.2456C>G	NP_002171.2:p.Pro819Arg
XM_005273974.2:c.1445C>G	XP_005274031.1:p.Pro482Arg
XM_005273975.2:c.1328C>G	XP_005274032.1:p.Pro443Arg
XM_011544994.1:c.1223C>G	XP_011543296.1:p.Pro408Arg
XR_949903.1:n.2558C>G
XM_005273975.3:c.1328C>G	XP_005274032.1:p.Pro443Arg
XM_017017669.2:c.1445C>G	XP_016873158.1:p.Pro482Arg
XM_017017670.2:c.1445C>G	XP_016873159.1:p.Pro482Arg
XR_949903.3:n.2554C>G
NM_002180.3:c.2456C>G MANE Select	NP_002171.2:p.Pro819Arg