Canonical Allele Identifier: CA6153398

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 758341
• ClinVar RCV Id: RCV000936049
• dbSNP Id: rs770943023
• ExAC: 11:68682372 C / T
• gnomAD v2: 11-68682372-C-T
• gnomAD v3: 11-68914904-C-T
• gnomAD v4: 11-68914904-C-T
• MyVariant Identifiers: chr11:g.68682372C>T (hg19) ; chr11:g.68914904C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914904C>T , CM000673.2:g.68914904C>T	GRCh38
NC_000011.9:g.68682372C>T , CM000673.1:g.68682372C>T	GRCh37
NC_000011.8:g.68438948C>T	NCBI36
NG_007976.1:g.16054C>T , LRG_250:g.16054C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.793C>T MANE Select	ENSP00000255078.4:p.Leu265=
ENST00000539224.2:c.922C>T
ENST00000674955.1:c.793C>T	ENSP00000502463.1:p.Leu265=
ENST00000675118.1:c.140C>T
ENST00000675119.1:c.82C>T	ENSP00000501861.1:p.Leu28=
ENST00000675305.1:c.82C>T	ENSP00000502365.1:p.Leu28=
ENST00000675464.1:c.82C>T	ENSP00000502650.1:p.Leu28=
ENST00000675615.1:c.793C>T	ENSP00000502413.1:p.Leu265=
ENST00000675683.1:c.180C>T
ENST00000676173.1:n.837C>T
ENST00000676228.1:c.*116C>T	ENSP00000502375.1:n.*116C>T
ENST00000676239.1:n.107C>T
ENST00000255078.7:c.793C>T	ENSP00000255078.3:p.Leu265=
ENST00000539224.1:c.*116C>T	ENSP00000440465.1:n.*116C>T
NM_002180.2:c.793C>T , LRG_250t1:c.793C>T	NP_002171.2:p.Leu265=
XM_005273974.2:c.-219C>T	XP_005274031.1:n.-219C>T
XM_005273976.1:c.793C>T	XP_005274033.1:p.Leu265=
XR_247198.1:n.895C>T
XR_949903.1:n.895C>T
XM_005273976.2:c.793C>T	XP_005274033.1:p.Leu265=
XM_017017669.2:c.-219C>T	XP_016873158.1:n.-219C>T
XM_017017670.2:c.-219C>T	XP_016873159.1:n.-219C>T
XM_017017671.2:c.793C>T	XP_016873160.1:p.Leu265=
XR_949903.3:n.891C>T
NM_002180.3:c.793C>T MANE Select	NP_002171.2:p.Leu265=