Canonical Allele Identifier: CA6153929

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 657026
• ClinVar RCV Id: RCV000813571
• dbSNP Id: rs371546836
• ExAC: 11:68704479 C / T
• gnomAD v2: 11-68704479-C-T
• gnomAD v3: 11-68937011-C-T
• gnomAD v4: 11-68937011-C-T
• MyVariant Identifiers: chr11:g.68704479C>T (hg19) ; chr11:g.68937011C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68937011C>T , CM000673.2:g.68937011C>T	GRCh38
NC_000011.9:g.68704479C>T , CM000673.1:g.68704479C>T	GRCh37
NC_000011.8:g.68461055C>T	NCBI36
NG_007976.1:g.38161C>T , LRG_250:g.38161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2531C>T MANE Select	ENSP00000255078.4:p.Ala844Val
ENST00000674675.1:c.676C>T
ENST00000674878.1:c.636C>T
ENST00000675118.1:c.2019C>T
ENST00000675389.1:n.806C>T
ENST00000675615.1:c.2531C>T	ENSP00000502413.1:p.Ala844Val
ENST00000675648.1:n.1906C>T
ENST00000675916.1:c.775C>T
ENST00000676173.1:n.3276C>T
ENST00000676182.1:c.962C>T
ENST00000676228.1:c.*1854C>T	ENSP00000502375.1:n.*1854C>T
ENST00000255078.7:c.2531C>T	ENSP00000255078.3:p.Ala844Val
ENST00000539064.5:n.2290C>T
ENST00000543739.5:n.1524C>T
NM_002180.2:c.2531C>T , LRG_250t1:c.2531C>T	NP_002171.2:p.Ala844Val
XM_005273974.2:c.1520C>T	XP_005274031.1:p.Ala507Val
XM_005273975.2:c.1403C>T	XP_005274032.1:p.Ala468Val
XM_011544994.1:c.1298C>T	XP_011543296.1:p.Ala433Val
XR_949903.1:n.2633C>T
XM_005273975.3:c.1403C>T	XP_005274032.1:p.Ala468Val
XM_017017669.2:c.1520C>T	XP_016873158.1:p.Ala507Val
XM_017017670.2:c.1520C>T	XP_016873159.1:p.Ala507Val
XR_949903.3:n.2629C>T
NM_002180.3:c.2531C>T MANE Select	NP_002171.2:p.Ala844Val