Canonical Allele Identifier: CA6153847

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs747963054
• ExAC: 11:68704119 A / G
• gnomAD v2: 11-68704119-A-G
• gnomAD v3: 11-68936651-A-G
• gnomAD v4: 11-68936651-A-G
• MyVariant Identifiers: chr11:g.68704119A>G (hg19) ; chr11:g.68936651A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936651A>G , CM000673.2:g.68936651A>G	GRCh38
NC_000011.9:g.68704119A>G , CM000673.1:g.68704119A>G	GRCh37
NC_000011.8:g.68460695A>G	NCBI36
NG_007976.1:g.37801A>G , LRG_250:g.37801A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2171A>G MANE Select	ENSP00000255078.4:p.Asp724Gly
ENST00000674675.1:c.415A>G
ENST00000674878.1:c.415A>G
ENST00000674955.1:c.*888A>G	ENSP00000502463.1:n.*888A>G
ENST00000675118.1:c.1659A>G
ENST00000675389.1:n.446A>G
ENST00000675615.1:c.2171A>G	ENSP00000502413.1:p.Asp724Gly
ENST00000675648.1:n.1546A>G
ENST00000675916.1:c.415A>G
ENST00000676173.1:n.2916A>G
ENST00000676182.1:c.602A>G
ENST00000676228.1:c.*1494A>G	ENSP00000502375.1:n.*1494A>G
ENST00000255078.7:c.2171A>G	ENSP00000255078.3:p.Asp724Gly
ENST00000539064.5:n.1930A>G
ENST00000543739.5:n.1164A>G
NM_002180.2:c.2171A>G , LRG_250t1:c.2171A>G	NP_002171.2:p.Asp724Gly
XM_005273974.2:c.1160A>G	XP_005274031.1:p.Asp387Gly
XM_005273975.2:c.1043A>G	XP_005274032.1:p.Asp348Gly
XM_011544994.1:c.938A>G	XP_011543296.1:p.Asp313Gly
XR_949903.1:n.2273A>G
XM_005273975.3:c.1043A>G	XP_005274032.1:p.Asp348Gly
XM_017017669.2:c.1160A>G	XP_016873158.1:p.Asp387Gly
XM_017017670.2:c.1160A>G	XP_016873159.1:p.Asp387Gly
XR_949903.3:n.2269A>G
NM_002180.3:c.2171A>G MANE Select	NP_002171.2:p.Asp724Gly