Canonical Allele Identifier: CA6153822

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 258566
• ClinVar RCV Id: RCV000241691 ; RCV000576392 ; RCV001173356 ; RCV001520689 ; RCV001729489 ; RCV001711688
• dbSNP Id: rs622082
• ExAC: 11:68703959 A / G
• gnomAD v2: 11-68703959-A-G
• gnomAD v3: 11-68936491-A-G
• gnomAD v4: 11-68936491-A-G
• MyVariant Identifiers: chr11:g.68703959A>G (hg19) ; chr11:g.68936491A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936491A>G , CM000673.2:g.68936491A>G	GRCh38
NC_000011.9:g.68703959A>G , CM000673.1:g.68703959A>G	GRCh37
NC_000011.8:g.68460535A>G	NCBI36
NG_007976.1:g.37641A>G , LRG_250:g.37641A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2011A>G MANE Select	ENSP00000255078.4:p.Thr671Ala
ENST00000674675.1:c.255A>G
ENST00000674878.1:c.255A>G
ENST00000674955.1:c.*728A>G	ENSP00000502463.1:n.*728A>G
ENST00000675118.1:c.1499A>G
ENST00000675389.1:n.286A>G
ENST00000675615.1:c.2011A>G	ENSP00000502413.1:p.Thr671Ala
ENST00000675648.1:n.1386A>G
ENST00000675916.1:c.255A>G
ENST00000676173.1:n.2756A>G
ENST00000676182.1:c.442A>G
ENST00000676228.1:c.*1334A>G	ENSP00000502375.1:n.*1334A>G
ENST00000255078.7:c.2011A>G	ENSP00000255078.3:p.Thr671Ala
ENST00000539064.5:n.1770A>G
ENST00000543739.5:n.1004A>G
NM_002180.2:c.2011A>G , LRG_250t1:c.2011A>G	NP_002171.2:p.Thr671Ala
XM_005273974.2:c.1000A>G	XP_005274031.1:p.Thr334Ala
XM_005273975.2:c.883A>G	XP_005274032.1:p.Thr295Ala
XM_011544994.1:c.778A>G	XP_011543296.1:p.Thr260Ala
XR_949903.1:n.2113A>G
XM_005273975.3:c.883A>G	XP_005274032.1:p.Thr295Ala
XM_017017669.2:c.1000A>G	XP_016873158.1:p.Thr334Ala
XM_017017670.2:c.1000A>G	XP_016873159.1:p.Thr334Ala
XR_949903.3:n.2109A>G
NM_002180.3:c.2011A>G MANE Select	NP_002171.2:p.Thr671Ala