Canonical Allele Identifier: CA6153846

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 534945
• ClinVar RCV Id: RCV000642664 ; RCV002422314
• dbSNP Id: rs774145467
• ExAC: 11:68704105 A / G
• gnomAD v2: 11-68704105-A-G
• gnomAD v4: 11-68936637-A-G
• MyVariant Identifiers: chr11:g.68704105A>G (hg19) ; chr11:g.68936637A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936637A>G , CM000673.2:g.68936637A>G	GRCh38
NC_000011.9:g.68704105A>G , CM000673.1:g.68704105A>G	GRCh37
NC_000011.8:g.68460681A>G	NCBI36
NG_007976.1:g.37787A>G , LRG_250:g.37787A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2157A>G MANE Select	ENSP00000255078.4:p.Gly719=
ENST00000674675.1:c.401A>G
ENST00000674878.1:c.401A>G
ENST00000674955.1:c.*874A>G	ENSP00000502463.1:n.*874A>G
ENST00000675118.1:c.1645A>G
ENST00000675389.1:n.432A>G
ENST00000675615.1:c.2157A>G	ENSP00000502413.1:p.Gly719=
ENST00000675648.1:n.1532A>G
ENST00000675916.1:c.401A>G
ENST00000676173.1:n.2902A>G
ENST00000676182.1:c.588A>G
ENST00000676228.1:c.*1480A>G	ENSP00000502375.1:n.*1480A>G
ENST00000255078.7:c.2157A>G	ENSP00000255078.3:p.Gly719=
ENST00000539064.5:n.1916A>G
ENST00000543739.5:n.1150A>G
NM_002180.2:c.2157A>G , LRG_250t1:c.2157A>G	NP_002171.2:p.Gly719=
XM_005273974.2:c.1146A>G	XP_005274031.1:p.Gly382=
XM_005273975.2:c.1029A>G	XP_005274032.1:p.Gly343=
XM_011544994.1:c.924A>G	XP_011543296.1:p.Gly308=
XR_949903.1:n.2259A>G
XM_005273975.3:c.1029A>G	XP_005274032.1:p.Gly343=
XM_017017669.2:c.1146A>G	XP_016873158.1:p.Gly382=
XM_017017670.2:c.1146A>G	XP_016873159.1:p.Gly382=
XR_949903.3:n.2255A>G
NM_002180.3:c.2157A>G MANE Select	NP_002171.2:p.Gly719=