Canonical Allele Identifier: CA6153871

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2560790
• ClinVar RCV Id: RCV003296365
• dbSNP Id: rs775660007
• ExAC: 11:68704217 C / T
• gnomAD v2: 11-68704217-C-T
• gnomAD v3: 11-68936749-C-T
• gnomAD v4: 11-68936749-C-T
• MyVariant Identifiers: chr11:g.68704217C>T (hg19) ; chr11:g.68936749C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936749C>T , CM000673.2:g.68936749C>T	GRCh38
NC_000011.9:g.68704217C>T , CM000673.1:g.68704217C>T	GRCh37
NC_000011.8:g.68460793C>T	NCBI36
NG_007976.1:g.37899C>T , LRG_250:g.37899C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2269C>T MANE Select	ENSP00000255078.4:p.Arg757Trp
ENST00000674675.1:c.513C>T
ENST00000674878.1:c.513C>T
ENST00000674955.1:c.*986C>T	ENSP00000502463.1:n.*986C>T
ENST00000675118.1:c.1757C>T
ENST00000675389.1:n.544C>T
ENST00000675615.1:c.2269C>T	ENSP00000502413.1:p.Arg757Trp
ENST00000675648.1:n.1644C>T
ENST00000675916.1:c.513C>T
ENST00000676173.1:n.3014C>T
ENST00000676182.1:c.700C>T
ENST00000676228.1:c.*1592C>T	ENSP00000502375.1:n.*1592C>T
ENST00000255078.7:c.2269C>T	ENSP00000255078.3:p.Arg757Trp
ENST00000539064.5:n.2028C>T
ENST00000543739.5:n.1262C>T
NM_002180.2:c.2269C>T , LRG_250t1:c.2269C>T	NP_002171.2:p.Arg757Trp
XM_005273974.2:c.1258C>T	XP_005274031.1:p.Arg420Trp
XM_005273975.2:c.1141C>T	XP_005274032.1:p.Arg381Trp
XM_011544994.1:c.1036C>T	XP_011543296.1:p.Arg346Trp
XR_949903.1:n.2371C>T
XM_005273975.3:c.1141C>T	XP_005274032.1:p.Arg381Trp
XM_017017669.2:c.1258C>T	XP_016873158.1:p.Arg420Trp
XM_017017670.2:c.1258C>T	XP_016873159.1:p.Arg420Trp
XR_949903.3:n.2367C>T
NM_002180.3:c.2269C>T MANE Select	NP_002171.2:p.Arg757Trp