Canonical Allele Identifier: CA381653554

Gene: IGHMBP2

Linked Data

• COSMIC: COSM931331
• MyVariant Identifiers: chr11:g.68704361C>G (hg19) ; chr11:g.68936893C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936893C>G , CM000673.2:g.68936893C>G	GRCh38
NC_000011.9:g.68704361C>G , CM000673.1:g.68704361C>G	GRCh37
NC_000011.8:g.68460937C>G	NCBI36
NG_007976.1:g.38043C>G , LRG_250:g.38043C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2413C>G MANE Select	ENSP00000255078.4:p.Leu805Val
ENST00000674675.1:c.588-30C>G
ENST00000674878.1:c.548-30C>G
ENST00000675118.1:c.1901C>G
ENST00000675389.1:n.688C>G
ENST00000675615.1:c.2413C>G	ENSP00000502413.1:p.Leu805Val
ENST00000675648.1:n.1788C>G
ENST00000675916.1:c.657C>G
ENST00000676173.1:n.3158C>G
ENST00000676182.1:c.844C>G
ENST00000676228.1:c.*1736C>G	ENSP00000502375.1:n.*1736C>G
ENST00000255078.7:c.2413C>G	ENSP00000255078.3:p.Leu805Val
ENST00000539064.5:n.2172C>G
ENST00000543739.5:n.1406C>G
NM_002180.2:c.2413C>G , LRG_250t1:c.2413C>G	NP_002171.2:p.Leu805Val
XM_005273974.2:c.1402C>G	XP_005274031.1:p.Leu468Val
XM_005273975.2:c.1285C>G	XP_005274032.1:p.Leu429Val
XM_011544994.1:c.1180C>G	XP_011543296.1:p.Leu394Val
XR_949903.1:n.2515C>G
XM_005273975.3:c.1285C>G	XP_005274032.1:p.Leu429Val
XM_017017669.2:c.1402C>G	XP_016873158.1:p.Leu468Val
XM_017017670.2:c.1402C>G	XP_016873159.1:p.Leu468Val
XR_949903.3:n.2511C>G
NM_002180.3:c.2413C>G MANE Select	NP_002171.2:p.Leu805Val