Canonical Allele Identifier: CA223413374

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 842242
• ClinVar RCV Id: RCV001044630
• dbSNP Id: rs1042372226
• gnomAD v2: 11-68704071-C-G
• gnomAD v3: 11-68936603-C-G
• gnomAD v4: 11-68936603-C-G
• MyVariant Identifiers: chr11:g.68704071C>G (hg19) ; chr11:g.68936603C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936603C>G , CM000673.2:g.68936603C>G	GRCh38
NC_000011.9:g.68704071C>G , CM000673.1:g.68704071C>G	GRCh37
NC_000011.8:g.68460647C>G	NCBI36
NG_007976.1:g.37753C>G , LRG_250:g.37753C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2123C>G MANE Select	ENSP00000255078.4:p.Ser708Cys
ENST00000674675.1:c.367C>G
ENST00000674878.1:c.367C>G
ENST00000674955.1:c.*840C>G	ENSP00000502463.1:n.*840C>G
ENST00000675118.1:c.1611C>G
ENST00000675389.1:n.398C>G
ENST00000675615.1:c.2123C>G	ENSP00000502413.1:p.Ser708Cys
ENST00000675648.1:n.1498C>G
ENST00000675916.1:c.367C>G
ENST00000676173.1:n.2868C>G
ENST00000676182.1:c.554C>G
ENST00000676228.1:c.*1446C>G	ENSP00000502375.1:n.*1446C>G
ENST00000255078.7:c.2123C>G	ENSP00000255078.3:p.Ser708Cys
ENST00000539064.5:n.1882C>G
ENST00000543739.5:n.1116C>G
NM_002180.2:c.2123C>G , LRG_250t1:c.2123C>G	NP_002171.2:p.Ser708Cys
XM_005273974.2:c.1112C>G	XP_005274031.1:p.Ser371Cys
XM_005273975.2:c.995C>G	XP_005274032.1:p.Ser332Cys
XM_011544994.1:c.890C>G	XP_011543296.1:p.Ser297Cys
XR_949903.1:n.2225C>G
XM_005273975.3:c.995C>G	XP_005274032.1:p.Ser332Cys
XM_017017669.2:c.1112C>G	XP_016873158.1:p.Ser371Cys
XM_017017670.2:c.1112C>G	XP_016873159.1:p.Ser371Cys
XR_949903.3:n.2221C>G
NM_002180.3:c.2123C>G MANE Select	NP_002171.2:p.Ser708Cys