Canonical Allele Identifier: CA6153827

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 381068
• ClinVar RCV Id: RCV000430376 ; RCV000757399 ; RCV001712368 ; RCV001173366 ; RCV002418265 ; RCV004551442
• dbSNP Id: rs138396245
• ExAC: 11:68703973 C / T
• gnomAD v2: 11-68703973-C-T
• gnomAD v3: 11-68936505-C-T
• gnomAD v4: 11-68936505-C-T
• MyVariant Identifiers: chr11:g.68703973C>T (hg19) ; chr11:g.68936505C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936505C>T , CM000673.2:g.68936505C>T	GRCh38
NC_000011.9:g.68703973C>T , CM000673.1:g.68703973C>T	GRCh37
NC_000011.8:g.68460549C>T	NCBI36
NG_007976.1:g.37655C>T , LRG_250:g.37655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2025C>T MANE Select	ENSP00000255078.4:p.Thr675=
ENST00000674675.1:c.269C>T
ENST00000674878.1:c.269C>T
ENST00000674955.1:c.*742C>T	ENSP00000502463.1:n.*742C>T
ENST00000675118.1:c.1513C>T
ENST00000675389.1:n.300C>T
ENST00000675615.1:c.2025C>T	ENSP00000502413.1:p.Thr675=
ENST00000675648.1:n.1400C>T
ENST00000675916.1:c.269C>T
ENST00000676173.1:n.2770C>T
ENST00000676182.1:c.456C>T
ENST00000676228.1:c.*1348C>T	ENSP00000502375.1:n.*1348C>T
ENST00000255078.7:c.2025C>T	ENSP00000255078.3:p.Thr675=
ENST00000539064.5:n.1784C>T
ENST00000543739.5:n.1018C>T
NM_002180.2:c.2025C>T , LRG_250t1:c.2025C>T	NP_002171.2:p.Thr675=
XM_005273974.2:c.1014C>T	XP_005274031.1:p.Thr338=
XM_005273975.2:c.897C>T	XP_005274032.1:p.Thr299=
XM_011544994.1:c.792C>T	XP_011543296.1:p.Thr264=
XR_949903.1:n.2127C>T
XM_005273975.3:c.897C>T	XP_005274032.1:p.Thr299=
XM_017017669.2:c.1014C>T	XP_016873158.1:p.Thr338=
XM_017017670.2:c.1014C>T	XP_016873159.1:p.Thr338=
XR_949903.3:n.2123C>T
NM_002180.3:c.2025C>T MANE Select	NP_002171.2:p.Thr675=