Canonical Allele Identifier: CA211918

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 162196
• ClinVar RCV Id: RCV000149576 ; RCV000192259
• dbSNP Id: rs724159958
• MyVariant Identifiers: chr11:g.68678964T>G (hg19) ; chr11:g.68911496T>G (hg38)
• PubMed: PMID:20301462 ; PMID:25439726

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68911496T>G , CM000673.2:g.68911496T>G	GRCh38
NC_000011.9:g.68678964T>G , CM000673.1:g.68678964T>G	GRCh37
NC_000011.8:g.68435540T>G	NCBI36
NG_007976.1:g.12646T>G , LRG_250:g.12646T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.604T>G MANE Select	ENSP00000255078.4:p.Phe202Val
ENST00000539224.2:c.567T>G
ENST00000674583.1:c.567T>G
ENST00000674955.1:c.604T>G	ENSP00000502463.1:p.Phe202Val
ENST00000675142.1:n.567T>G
ENST00000675615.1:c.604T>G	ENSP00000502413.1:p.Phe202Val
ENST00000675674.1:n.567T>G
ENST00000675683.1:c.98+2865T>G
ENST00000675873.1:c.567T>G
ENST00000676173.1:n.648T>G
ENST00000676228.1:c.506T>G	ENSP00000502375.1:p.Ile169Ser
ENST00000255078.7:c.604T>G	ENSP00000255078.3:p.Phe202Val
ENST00000539224.1:c.506T>G	ENSP00000440465.1:p.Ile169Ser
NM_002180.2:c.604T>G , LRG_250t1:c.604T>G	NP_002171.2:p.Phe202Val
XM_005273974.2:c.-408T>G	XP_005274031.1:n.-408T>G
XM_005273976.1:c.604T>G	XP_005274033.1:p.Phe202Val
XR_247198.1:n.706T>G
XR_949903.1:n.706T>G
XM_005273976.2:c.604T>G	XP_005274033.1:p.Phe202Val
XM_017017669.2:c.-408T>G	XP_016873158.1:n.-408T>G
XM_017017671.2:c.604T>G	XP_016873160.1:p.Phe202Val
XR_949903.3:n.702T>G
NM_002180.3:c.604T>G MANE Select	NP_002171.2:p.Phe202Val