Canonical Allele Identifier: CA6153936

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 917018
• ClinVar RCV Id: RCV001173349
• dbSNP Id: rs763406969
• ExAC: 11:68704496 A / G
• gnomAD v2: 11-68704496-A-G
• gnomAD v4: 11-68937028-A-G
• MyVariant Identifiers: chr11:g.68704496A>G (hg19) ; chr11:g.68937028A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68937028A>G , CM000673.2:g.68937028A>G	GRCh38
NC_000011.9:g.68704496A>G , CM000673.1:g.68704496A>G	GRCh37
NC_000011.8:g.68461072A>G	NCBI36
NG_007976.1:g.38178A>G , LRG_250:g.38178A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2548A>G MANE Select	ENSP00000255078.4:p.Ser850Gly
ENST00000674675.1:c.693A>G
ENST00000674878.1:c.653A>G
ENST00000675118.1:c.2036A>G
ENST00000675389.1:n.823A>G
ENST00000675615.1:c.2548A>G	ENSP00000502413.1:p.Ser850Gly
ENST00000675648.1:n.1923A>G
ENST00000675916.1:c.792A>G
ENST00000676173.1:n.3293A>G
ENST00000676182.1:c.979A>G
ENST00000676228.1:c.*1871A>G	ENSP00000502375.1:n.*1871A>G
ENST00000255078.7:c.2548A>G	ENSP00000255078.3:p.Ser850Gly
ENST00000539064.5:n.2307A>G
ENST00000543739.5:n.1541A>G
NM_002180.2:c.2548A>G , LRG_250t1:c.2548A>G	NP_002171.2:p.Ser850Gly
XM_005273974.2:c.1537A>G	XP_005274031.1:p.Ser513Gly
XM_005273975.2:c.1420A>G	XP_005274032.1:p.Ser474Gly
XM_011544994.1:c.1315A>G	XP_011543296.1:p.Ser439Gly
XR_949903.1:n.2650A>G
XM_005273975.3:c.1420A>G	XP_005274032.1:p.Ser474Gly
XM_017017669.2:c.1537A>G	XP_016873158.1:p.Ser513Gly
XM_017017670.2:c.1537A>G	XP_016873159.1:p.Ser513Gly
XR_949903.3:n.2646A>G
NM_002180.3:c.2548A>G MANE Select	NP_002171.2:p.Ser850Gly