Canonical Allele Identifier: CA6153891

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 637262
• ClinVar RCV Id: RCV000789336 ; RCV000856977 ; RCV001310976 ; RCV000985181 ; RCV001869220 ; RCV002252236
• dbSNP Id: rs199839840
• ExAC: 11:68704310 C / T
• gnomAD v2: 11-68704310-C-T
• gnomAD v3: 11-68936842-C-T
• gnomAD v4: 11-68936842-C-T
• COSMIC: COSM166608
• MyVariant Identifiers: chr11:g.68704310C>T (hg19) ; chr11:g.68936842C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936842C>T , CM000673.2:g.68936842C>T	GRCh38
NC_000011.9:g.68704310C>T , CM000673.1:g.68704310C>T	GRCh37
NC_000011.8:g.68460886C>T	NCBI36
NG_007976.1:g.37992C>T , LRG_250:g.37992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2362C>T MANE Select	ENSP00000255078.4:p.Arg788Ter
ENST00000674675.1:c.587+19C>T
ENST00000674878.1:c.547+59C>T
ENST00000674955.1:c.*1079C>T	ENSP00000502463.1:n.*1079C>T
ENST00000675118.1:c.1850C>T
ENST00000675389.1:n.637C>T
ENST00000675615.1:c.2362C>T	ENSP00000502413.1:p.Arg788Ter
ENST00000675648.1:n.1737C>T
ENST00000675916.1:c.606C>T
ENST00000676173.1:n.3107C>T
ENST00000676182.1:c.793C>T
ENST00000676228.1:c.*1685C>T	ENSP00000502375.1:n.*1685C>T
ENST00000255078.7:c.2362C>T	ENSP00000255078.3:p.Arg788Ter
ENST00000539064.5:n.2121C>T
ENST00000543739.5:n.1355C>T
NM_002180.2:c.2362C>T , LRG_250t1:c.2362C>T	NP_002171.2:p.Arg788Ter
XM_005273974.2:c.1351C>T	XP_005274031.1:p.Arg451Ter
XM_005273975.2:c.1234C>T	XP_005274032.1:p.Arg412Ter
XM_011544994.1:c.1129C>T	XP_011543296.1:p.Arg377Ter
XR_949903.1:n.2464C>T
XM_005273975.3:c.1234C>T	XP_005274032.1:p.Arg412Ter
XM_017017669.2:c.1351C>T	XP_016873158.1:p.Arg451Ter
XM_017017670.2:c.1351C>T	XP_016873159.1:p.Arg451Ter
XR_949903.3:n.2460C>T
NM_002180.3:c.2362C>T MANE Select	NP_002171.2:p.Arg788Ter