Canonical Allele Identifier: CA381652817

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704052C>G (hg19) ; chr11:g.68936584C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936584C>G , CM000673.2:g.68936584C>G	GRCh38
NC_000011.9:g.68704052C>G , CM000673.1:g.68704052C>G	GRCh37
NC_000011.8:g.68460628C>G	NCBI36
NG_007976.1:g.37734C>G , LRG_250:g.37734C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2104C>G MANE Select	ENSP00000255078.4:p.Leu702Val
ENST00000674675.1:c.348C>G
ENST00000674878.1:c.348C>G
ENST00000674955.1:c.*821C>G	ENSP00000502463.1:n.*821C>G
ENST00000675118.1:c.1592C>G
ENST00000675389.1:n.379C>G
ENST00000675615.1:c.2104C>G	ENSP00000502413.1:p.Leu702Val
ENST00000675648.1:n.1479C>G
ENST00000675916.1:c.348C>G
ENST00000676173.1:n.2849C>G
ENST00000676182.1:c.535C>G
ENST00000676228.1:c.*1427C>G	ENSP00000502375.1:n.*1427C>G
ENST00000255078.7:c.2104C>G	ENSP00000255078.3:p.Leu702Val
ENST00000539064.5:n.1863C>G
ENST00000543739.5:n.1097C>G
NM_002180.2:c.2104C>G , LRG_250t1:c.2104C>G	NP_002171.2:p.Leu702Val
XM_005273974.2:c.1093C>G	XP_005274031.1:p.Leu365Val
XM_005273975.2:c.976C>G	XP_005274032.1:p.Leu326Val
XM_011544994.1:c.871C>G	XP_011543296.1:p.Leu291Val
XR_949903.1:n.2206C>G
XM_005273975.3:c.976C>G	XP_005274032.1:p.Leu326Val
XM_017017669.2:c.1093C>G	XP_016873158.1:p.Leu365Val
XM_017017670.2:c.1093C>G	XP_016873159.1:p.Leu365Val
XR_949903.3:n.2202C>G
NM_002180.3:c.2104C>G MANE Select	NP_002171.2:p.Leu702Val