Canonical Allele Identifier: CA6153896

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 488695
• ClinVar RCV Id: RCV000795152 ; RCV000578974 ; RCV002456274
• dbSNP Id: rs773242930
• ExAC: 11:68704316 C / T
• gnomAD v2: 11-68704316-C-T
• gnomAD v3: 11-68936848-C-T
• gnomAD v4: 11-68936848-C-T
• MyVariant Identifiers: chr11:g.68704316C>T (hg19) ; chr11:g.68936848C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936848C>T , CM000673.2:g.68936848C>T	GRCh38
NC_000011.9:g.68704316C>T , CM000673.1:g.68704316C>T	GRCh37
NC_000011.8:g.68460892C>T	NCBI36
NG_007976.1:g.37998C>T , LRG_250:g.37998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2368C>T MANE Select	ENSP00000255078.4:p.Arg790Ter
ENST00000674675.1:c.587+25C>T
ENST00000674878.1:c.547+65C>T
ENST00000674955.1:c.*1085C>T	ENSP00000502463.1:n.*1085C>T
ENST00000675118.1:c.1856C>T
ENST00000675389.1:n.643C>T
ENST00000675615.1:c.2368C>T	ENSP00000502413.1:p.Arg790Ter
ENST00000675648.1:n.1743C>T
ENST00000675916.1:c.612C>T
ENST00000676173.1:n.3113C>T
ENST00000676182.1:c.799C>T
ENST00000676228.1:c.*1691C>T	ENSP00000502375.1:n.*1691C>T
ENST00000255078.7:c.2368C>T	ENSP00000255078.3:p.Arg790Ter
ENST00000539064.5:n.2127C>T
ENST00000543739.5:n.1361C>T
NM_002180.2:c.2368C>T , LRG_250t1:c.2368C>T	NP_002171.2:p.Arg790Ter
XM_005273974.2:c.1357C>T	XP_005274031.1:p.Arg453Ter
XM_005273975.2:c.1240C>T	XP_005274032.1:p.Arg414Ter
XM_011544994.1:c.1135C>T	XP_011543296.1:p.Arg379Ter
XR_949903.1:n.2470C>T
XM_005273975.3:c.1240C>T	XP_005274032.1:p.Arg414Ter
XM_017017669.2:c.1357C>T	XP_016873158.1:p.Arg453Ter
XM_017017670.2:c.1357C>T	XP_016873159.1:p.Arg453Ter
XR_949903.3:n.2466C>T
NM_002180.3:c.2368C>T MANE Select	NP_002171.2:p.Arg790Ter