Canonical Allele Identifier: CA475280735

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2102788
• ClinVar RCV Id: RCV003028702
• dbSNP Id: rs1340282313
• gnomAD v3: 11-68936746-C-T
• gnomAD v4: 11-68936746-C-T
• MyVariant Identifiers: chr11:g.68704214C>T (hg19) ; chr11:g.68936746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936746C>T , CM000673.2:g.68936746C>T	GRCh38
NC_000011.9:g.68704214C>T , CM000673.1:g.68704214C>T	GRCh37
NC_000011.8:g.68460790C>T	NCBI36
NG_007976.1:g.37896C>T , LRG_250:g.37896C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2266C>T MANE Select	ENSP00000255078.4:p.Leu756=
ENST00000674675.1:c.510C>T
ENST00000674878.1:c.510C>T
ENST00000674955.1:c.*983C>T	ENSP00000502463.1:n.*983C>T
ENST00000675118.1:c.1754C>T
ENST00000675389.1:n.541C>T
ENST00000675615.1:c.2266C>T	ENSP00000502413.1:p.Leu756=
ENST00000675648.1:n.1641C>T
ENST00000675916.1:c.510C>T
ENST00000676173.1:n.3011C>T
ENST00000676182.1:c.697C>T
ENST00000676228.1:c.*1589C>T	ENSP00000502375.1:n.*1589C>T
ENST00000255078.7:c.2266C>T	ENSP00000255078.3:p.Leu756=
ENST00000539064.5:n.2025C>T
ENST00000543739.5:n.1259C>T
NM_002180.2:c.2266C>T , LRG_250t1:c.2266C>T	NP_002171.2:p.Leu756=
XM_005273974.2:c.1255C>T	XP_005274031.1:p.Leu419=
XM_005273975.2:c.1138C>T	XP_005274032.1:p.Leu380=
XM_011544994.1:c.1033C>T	XP_011543296.1:p.Leu345=
XR_949903.1:n.2368C>T
XM_005273975.3:c.1138C>T	XP_005274032.1:p.Leu380=
XM_017017669.2:c.1255C>T	XP_016873158.1:p.Leu419=
XM_017017670.2:c.1255C>T	XP_016873159.1:p.Leu419=
XR_949903.3:n.2364C>T
NM_002180.3:c.2266C>T MANE Select	NP_002171.2:p.Leu756=