Canonical Allele Identifier: CA6153904

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 509016
• ClinVar RCV Id: RCV000612759 ; RCV002063166 ; RCV002456339
• dbSNP Id: rs763818374
• ExAC: 11:68704345 C / T
• gnomAD v2: 11-68704345-C-T
• gnomAD v3: 11-68936877-C-T
• gnomAD v4: 11-68936877-C-T
• MyVariant Identifiers: chr11:g.68704345C>T (hg19) ; chr11:g.68936877C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936877C>T , CM000673.2:g.68936877C>T	GRCh38
NC_000011.9:g.68704345C>T , CM000673.1:g.68704345C>T	GRCh37
NC_000011.8:g.68460921C>T	NCBI36
NG_007976.1:g.38027C>T , LRG_250:g.38027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2397C>T MANE Select	ENSP00000255078.4:p.Thr799=
ENST00000674675.1:c.588-46C>T
ENST00000674878.1:c.548-46C>T
ENST00000675118.1:c.1885C>T
ENST00000675389.1:n.672C>T
ENST00000675615.1:c.2397C>T	ENSP00000502413.1:p.Thr799=
ENST00000675648.1:n.1772C>T
ENST00000675916.1:c.641C>T
ENST00000676173.1:n.3142C>T
ENST00000676182.1:c.828C>T
ENST00000676228.1:c.*1720C>T	ENSP00000502375.1:n.*1720C>T
ENST00000255078.7:c.2397C>T	ENSP00000255078.3:p.Thr799=
ENST00000539064.5:n.2156C>T
ENST00000543739.5:n.1390C>T
NM_002180.2:c.2397C>T , LRG_250t1:c.2397C>T	NP_002171.2:p.Thr799=
XM_005273974.2:c.1386C>T	XP_005274031.1:p.Thr462=
XM_005273975.2:c.1269C>T	XP_005274032.1:p.Thr423=
XM_011544994.1:c.1164C>T	XP_011543296.1:p.Thr388=
XR_949903.1:n.2499C>T
XM_005273975.3:c.1269C>T	XP_005274032.1:p.Thr423=
XM_017017669.2:c.1386C>T	XP_016873158.1:p.Thr462=
XM_017017670.2:c.1386C>T	XP_016873159.1:p.Thr462=
XR_949903.3:n.2495C>T
NM_002180.3:c.2397C>T MANE Select	NP_002171.2:p.Thr799=