Canonical Allele Identifier: CA381650355

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 955644
• ClinVar RCV Id: RCV001228324
• dbSNP Id: rs772984773
• MyVariant Identifiers: chr11:g.68701373G>C (hg19) ; chr11:g.68933905G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933905G>C , CM000673.2:g.68933905G>C	GRCh38
NC_000011.9:g.68701373G>C , CM000673.1:g.68701373G>C	GRCh37
NC_000011.8:g.68457949G>C	NCBI36
NG_007976.1:g.35055G>C , LRG_250:g.35055G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1529G>C MANE Select	ENSP00000255078.4:p.Gly510Ala
ENST00000674955.1:c.*246G>C	ENSP00000502463.1:n.*246G>C
ENST00000675118.1:c.1017G>C
ENST00000675205.1:n.183+424G>C
ENST00000675615.1:c.1529G>C	ENSP00000502413.1:p.Gly510Ala
ENST00000675648.1:n.904G>C
ENST00000675997.1:n.113-559G>C
ENST00000676173.1:n.2274G>C
ENST00000676228.1:c.*852G>C	ENSP00000502375.1:n.*852G>C
ENST00000255078.7:c.1529G>C	ENSP00000255078.3:p.Gly510Ala
ENST00000537458.5:n.646G>C
ENST00000539064.5:n.1288G>C
ENST00000541229.5:n.224G>C
ENST00000543739.5:n.646G>C
NM_002180.2:c.1529G>C , LRG_250t1:c.1529G>C	NP_002171.2:p.Gly510Ala
XM_005273974.2:c.518G>C	XP_005274031.1:p.Gly173Ala
XM_005273975.2:c.401G>C	XP_005274032.1:p.Gly134Ala
XM_011544994.1:c.296G>C	XP_011543296.1:p.Gly99Ala
XR_949903.1:n.1631G>C
XM_005273975.3:c.401G>C	XP_005274032.1:p.Gly134Ala
XM_017017669.2:c.518G>C	XP_016873158.1:p.Gly173Ala
XM_017017670.2:c.518G>C	XP_016873159.1:p.Gly173Ala
XM_017017671.2:c.1529G>C	XP_016873160.1:p.Gly510Ala
XR_949903.3:n.1627G>C
NM_002180.3:c.1529G>C MANE Select	NP_002171.2:p.Gly510Ala