Canonical Allele Identifier: CA6153840

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1786117
• ClinVar RCV Id: RCV002417494
• dbSNP Id: rs781560475
• ExAC: 11:68704059 C / T
• gnomAD v2: 11-68704059-C-T
• gnomAD v3: 11-68936591-C-T
• gnomAD v4: 11-68936591-C-T
• MyVariant Identifiers: chr11:g.68704059C>T (hg19) ; chr11:g.68936591C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936591C>T , CM000673.2:g.68936591C>T	GRCh38
NC_000011.9:g.68704059C>T , CM000673.1:g.68704059C>T	GRCh37
NC_000011.8:g.68460635C>T	NCBI36
NG_007976.1:g.37741C>T , LRG_250:g.37741C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2111C>T MANE Select	ENSP00000255078.4:p.Ser704Phe
ENST00000674675.1:c.355C>T
ENST00000674878.1:c.355C>T
ENST00000674955.1:c.*828C>T	ENSP00000502463.1:n.*828C>T
ENST00000675118.1:c.1599C>T
ENST00000675389.1:n.386C>T
ENST00000675615.1:c.2111C>T	ENSP00000502413.1:p.Ser704Phe
ENST00000675648.1:n.1486C>T
ENST00000675916.1:c.355C>T
ENST00000676173.1:n.2856C>T
ENST00000676182.1:c.542C>T
ENST00000676228.1:c.*1434C>T	ENSP00000502375.1:n.*1434C>T
ENST00000255078.7:c.2111C>T	ENSP00000255078.3:p.Ser704Phe
ENST00000539064.5:n.1870C>T
ENST00000543739.5:n.1104C>T
NM_002180.2:c.2111C>T , LRG_250t1:c.2111C>T	NP_002171.2:p.Ser704Phe
XM_005273974.2:c.1100C>T	XP_005274031.1:p.Ser367Phe
XM_005273975.2:c.983C>T	XP_005274032.1:p.Ser328Phe
XM_011544994.1:c.878C>T	XP_011543296.1:p.Ser293Phe
XR_949903.1:n.2213C>T
XM_005273975.3:c.983C>T	XP_005274032.1:p.Ser328Phe
XM_017017669.2:c.1100C>T	XP_016873158.1:p.Ser367Phe
XM_017017670.2:c.1100C>T	XP_016873159.1:p.Ser367Phe
XR_949903.3:n.2209C>T
NM_002180.3:c.2111C>T MANE Select	NP_002171.2:p.Ser704Phe