Canonical Allele Identifier: CA10584392

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 246581
• ClinVar RCV Id: RCV000235796 ; RCV001035979
• dbSNP Id: rs879254320
• MyVariant Identifiers: chr11:g.68704081C>G (hg19) ; chr11:g.68936613C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936613C>G , CM000673.2:g.68936613C>G	GRCh38
NC_000011.9:g.68704081C>G , CM000673.1:g.68704081C>G	GRCh37
NC_000011.8:g.68460657C>G	NCBI36
NG_007976.1:g.37763C>G , LRG_250:g.37763C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2133C>G MANE Select	ENSP00000255078.4:p.Ser711Arg
ENST00000674675.1:c.377C>G
ENST00000674878.1:c.377C>G
ENST00000674955.1:c.*850C>G	ENSP00000502463.1:n.*850C>G
ENST00000675118.1:c.1621C>G
ENST00000675389.1:n.408C>G
ENST00000675615.1:c.2133C>G	ENSP00000502413.1:p.Ser711Arg
ENST00000675648.1:n.1508C>G
ENST00000675916.1:c.377C>G
ENST00000676173.1:n.2878C>G
ENST00000676182.1:c.564C>G
ENST00000676228.1:c.*1456C>G	ENSP00000502375.1:n.*1456C>G
ENST00000255078.7:c.2133C>G	ENSP00000255078.3:p.Ser711Arg
ENST00000539064.5:n.1892C>G
ENST00000543739.5:n.1126C>G
NM_002180.2:c.2133C>G , LRG_250t1:c.2133C>G	NP_002171.2:p.Ser711Arg
XM_005273974.2:c.1122C>G	XP_005274031.1:p.Ser374Arg
XM_005273975.2:c.1005C>G	XP_005274032.1:p.Ser335Arg
XM_011544994.1:c.900C>G	XP_011543296.1:p.Ser300Arg
XR_949903.1:n.2235C>G
XM_005273975.3:c.1005C>G	XP_005274032.1:p.Ser335Arg
XM_017017669.2:c.1122C>G	XP_016873158.1:p.Ser374Arg
XM_017017670.2:c.1122C>G	XP_016873159.1:p.Ser374Arg
XR_949903.3:n.2231C>G
NM_002180.3:c.2133C>G MANE Select	NP_002171.2:p.Ser711Arg