Canonical Allele Identifier: CA6153659

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 507676
• ClinVar RCV Id: RCV000612360 ; RCV000875066 ; RCV002395556
• dbSNP Id: rs773180915
• ExAC: 11:68701326 C / T
• gnomAD v2: 11-68701326-C-T
• gnomAD v3: 11-68933858-C-T
• gnomAD v4: 11-68933858-C-T
• MyVariant Identifiers: chr11:g.68701326C>T (hg19) ; chr11:g.68933858C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933858C>T , CM000673.2:g.68933858C>T	GRCh38
NC_000011.9:g.68701326C>T , CM000673.1:g.68701326C>T	GRCh37
NC_000011.8:g.68457902C>T	NCBI36
NG_007976.1:g.35008C>T , LRG_250:g.35008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1482C>T MANE Select	ENSP00000255078.4:p.Ala494=
ENST00000674955.1:c.*199C>T	ENSP00000502463.1:n.*199C>T
ENST00000675118.1:c.970C>T
ENST00000675205.1:n.183+377C>T
ENST00000675615.1:c.1482C>T	ENSP00000502413.1:p.Ala494=
ENST00000675648.1:n.857C>T
ENST00000675997.1:n.113-606C>T
ENST00000676173.1:n.2227C>T
ENST00000676228.1:c.*805C>T	ENSP00000502375.1:n.*805C>T
ENST00000255078.7:c.1482C>T	ENSP00000255078.3:p.Ala494=
ENST00000537458.5:n.599C>T
ENST00000539064.5:n.1241C>T
ENST00000541229.5:n.177C>T
ENST00000543739.5:n.599C>T
NM_002180.2:c.1482C>T , LRG_250t1:c.1482C>T	NP_002171.2:p.Ala494=
XM_005273974.2:c.471C>T	XP_005274031.1:p.Ala157=
XM_005273975.2:c.354C>T	XP_005274032.1:p.Ala118=
XM_011544994.1:c.249C>T	XP_011543296.1:p.Ala83=
XR_949903.1:n.1584C>T
XM_005273975.3:c.354C>T	XP_005274032.1:p.Ala118=
XM_017017669.2:c.471C>T	XP_016873158.1:p.Ala157=
XM_017017670.2:c.471C>T	XP_016873159.1:p.Ala157=
XM_017017671.2:c.1482C>T	XP_016873160.1:p.Ala494=
XR_949903.3:n.1580C>T
NM_002180.3:c.1482C>T MANE Select	NP_002171.2:p.Ala494=