Canonical Allele Identifier: CA381650048

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701332C>G (hg19) ; chr11:g.68933864C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933864C>G , CM000673.2:g.68933864C>G	GRCh38
NC_000011.9:g.68701332C>G , CM000673.1:g.68701332C>G	GRCh37
NC_000011.8:g.68457908C>G	NCBI36
NG_007976.1:g.35014C>G , LRG_250:g.35014C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1488C>G MANE Select	ENSP00000255078.4:p.Cys496Trp
ENST00000674955.1:c.*205C>G	ENSP00000502463.1:n.*205C>G
ENST00000675118.1:c.976C>G
ENST00000675205.1:n.183+383C>G
ENST00000675615.1:c.1488C>G	ENSP00000502413.1:p.Cys496Trp
ENST00000675648.1:n.863C>G
ENST00000675997.1:n.113-600C>G
ENST00000676173.1:n.2233C>G
ENST00000676228.1:c.*811C>G	ENSP00000502375.1:n.*811C>G
ENST00000255078.7:c.1488C>G	ENSP00000255078.3:p.Cys496Trp
ENST00000537458.5:n.605C>G
ENST00000539064.5:n.1247C>G
ENST00000541229.5:n.183C>G
ENST00000543739.5:n.605C>G
NM_002180.2:c.1488C>G , LRG_250t1:c.1488C>G	NP_002171.2:p.Cys496Trp
XM_005273974.2:c.477C>G	XP_005274031.1:p.Cys159Trp
XM_005273975.2:c.360C>G	XP_005274032.1:p.Cys120Trp
XM_011544994.1:c.255C>G	XP_011543296.1:p.Cys85Trp
XR_949903.1:n.1590C>G
XM_005273975.3:c.360C>G	XP_005274032.1:p.Cys120Trp
XM_017017669.2:c.477C>G	XP_016873158.1:p.Cys159Trp
XM_017017670.2:c.477C>G	XP_016873159.1:p.Cys159Trp
XM_017017671.2:c.1488C>G	XP_016873160.1:p.Cys496Trp
XR_949903.3:n.1586C>G
NM_002180.3:c.1488C>G MANE Select	NP_002171.2:p.Cys496Trp