Canonical Allele Identifier: CA381653834

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1315692057
• gnomAD v2: 11-68704466-A-G
• MyVariant Identifiers: chr11:g.68704466A>G (hg19) ; chr11:g.68936998A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936998A>G , CM000673.2:g.68936998A>G	GRCh38
NC_000011.9:g.68704466A>G , CM000673.1:g.68704466A>G	GRCh37
NC_000011.8:g.68461042A>G	NCBI36
NG_007976.1:g.38148A>G , LRG_250:g.38148A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2518A>G MANE Select	ENSP00000255078.4:p.Arg840Gly
ENST00000674675.1:c.663A>G
ENST00000674878.1:c.623A>G
ENST00000675118.1:c.2006A>G
ENST00000675389.1:n.793A>G
ENST00000675615.1:c.2518A>G	ENSP00000502413.1:p.Arg840Gly
ENST00000675648.1:n.1893A>G
ENST00000675916.1:c.762A>G
ENST00000676173.1:n.3263A>G
ENST00000676182.1:c.949A>G
ENST00000676228.1:c.*1841A>G	ENSP00000502375.1:n.*1841A>G
ENST00000255078.7:c.2518A>G	ENSP00000255078.3:p.Arg840Gly
ENST00000539064.5:n.2277A>G
ENST00000543739.5:n.1511A>G
NM_002180.2:c.2518A>G , LRG_250t1:c.2518A>G	NP_002171.2:p.Arg840Gly
XM_005273974.2:c.1507A>G	XP_005274031.1:p.Arg503Gly
XM_005273975.2:c.1390A>G	XP_005274032.1:p.Arg464Gly
XM_011544994.1:c.1285A>G	XP_011543296.1:p.Arg429Gly
XR_949903.1:n.2620A>G
XM_005273975.3:c.1390A>G	XP_005274032.1:p.Arg464Gly
XM_017017669.2:c.1507A>G	XP_016873158.1:p.Arg503Gly
XM_017017670.2:c.1507A>G	XP_016873159.1:p.Arg503Gly
XR_949903.3:n.2616A>G
NM_002180.3:c.2518A>G MANE Select	NP_002171.2:p.Arg840Gly