Canonical Allele Identifier: CA475280796

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2123757
• ClinVar RCV Id: RCV003035573
• gnomAD v4: 11-68936829-C-T
• MyVariant Identifiers: chr11:g.68704297C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936829C>T , CM000673.2:g.68936829C>T	GRCh38
NC_000011.9:g.68704297C>T , CM000673.1:g.68704297C>T	GRCh37
NC_000011.8:g.68460873C>T	NCBI36
NG_007976.1:g.37979C>T , LRG_250:g.37979C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2349C>T MANE Select	ENSP00000255078.4:p.Ser783=
ENST00000674675.1:c.587+6C>T
ENST00000674878.1:c.547+46C>T
ENST00000674955.1:c.*1066C>T	ENSP00000502463.1:n.*1066C>T
ENST00000675118.1:c.1837C>T
ENST00000675389.1:n.624C>T
ENST00000675615.1:c.2349C>T	ENSP00000502413.1:p.Ser783=
ENST00000675648.1:n.1724C>T
ENST00000675916.1:c.593C>T
ENST00000676173.1:n.3094C>T
ENST00000676182.1:c.780C>T
ENST00000676228.1:c.*1672C>T	ENSP00000502375.1:n.*1672C>T
ENST00000255078.7:c.2349C>T	ENSP00000255078.3:p.Ser783=
ENST00000539064.5:n.2108C>T
ENST00000543739.5:n.1342C>T
NM_002180.2:c.2349C>T , LRG_250t1:c.2349C>T	NP_002171.2:p.Ser783=
XM_005273974.2:c.1338C>T	XP_005274031.1:p.Ser446=
XM_005273975.2:c.1221C>T	XP_005274032.1:p.Ser407=
XM_011544994.1:c.1116C>T	XP_011543296.1:p.Ser372=
XR_949903.1:n.2451C>T
XM_005273975.3:c.1221C>T	XP_005274032.1:p.Ser407=
XM_017017669.2:c.1338C>T	XP_016873158.1:p.Ser446=
XM_017017670.2:c.1338C>T	XP_016873159.1:p.Ser446=
XR_949903.3:n.2447C>T
NM_002180.3:c.2349C>T MANE Select	NP_002171.2:p.Ser783=