Canonical Allele Identifier: CA6153645

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 854529
• ClinVar RCV Id: RCV001059603 ; RCV002393289 ; RCV003132191
• dbSNP Id: rs776158939
• ExAC: 11:68701267 C / T
• gnomAD v2: 11-68701267-C-T
• gnomAD v3: 11-68933799-C-T
• gnomAD v4: 11-68933799-C-T
• MyVariant Identifiers: chr11:g.68701267C>T (hg19) ; chr11:g.68933799C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933799C>T , CM000673.2:g.68933799C>T	GRCh38
NC_000011.9:g.68701267C>T , CM000673.1:g.68701267C>T	GRCh37
NC_000011.8:g.68457843C>T	NCBI36
NG_007976.1:g.34949C>T , LRG_250:g.34949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1423C>T MANE Select	ENSP00000255078.4:p.Leu475Phe
ENST00000674955.1:c.*140C>T	ENSP00000502463.1:n.*140C>T
ENST00000675118.1:c.911C>T
ENST00000675205.1:n.183+318C>T
ENST00000675615.1:c.1423C>T	ENSP00000502413.1:p.Leu475Phe
ENST00000675648.1:n.798C>T
ENST00000675997.1:n.113-665C>T
ENST00000676173.1:n.2168C>T
ENST00000676228.1:c.*746C>T	ENSP00000502375.1:n.*746C>T
ENST00000255078.7:c.1423C>T	ENSP00000255078.3:p.Leu475Phe
ENST00000537458.5:n.540C>T
ENST00000539064.5:n.1182C>T
ENST00000541229.5:n.118C>T
ENST00000543739.5:n.540C>T
NM_002180.2:c.1423C>T , LRG_250t1:c.1423C>T	NP_002171.2:p.Leu475Phe
XM_005273974.2:c.412C>T	XP_005274031.1:p.Leu138Phe
XM_005273975.2:c.295C>T	XP_005274032.1:p.Leu99Phe
XM_011544994.1:c.190C>T	XP_011543296.1:p.Leu64Phe
XR_949903.1:n.1525C>T
XM_005273975.3:c.295C>T	XP_005274032.1:p.Leu99Phe
XM_017017669.2:c.412C>T	XP_016873158.1:p.Leu138Phe
XM_017017670.2:c.412C>T	XP_016873159.1:p.Leu138Phe
XM_017017671.2:c.1423C>T	XP_016873160.1:p.Leu475Phe
XR_949903.3:n.1521C>T
NM_002180.3:c.1423C>T MANE Select	NP_002171.2:p.Leu475Phe