Canonical Allele Identifier: CA223412811

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs545725606
• gnomAD v2: 11-68703652-A-G
• gnomAD v3: 11-68936184-A-G
• gnomAD v4: 11-68936184-A-G
• MyVariant Identifiers: chr11:g.68703652A>G (hg19) ; chr11:g.68936184A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936184A>G , CM000673.2:g.68936184A>G	GRCh38
NC_000011.9:g.68703652A>G , CM000673.1:g.68703652A>G	GRCh37
NC_000011.8:g.68460228A>G	NCBI36
NG_007976.1:g.37334A>G , LRG_250:g.37334A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1757-53A>G MANE Select	ENSP00000255078.4:n.1757-53A>G
ENST00000674955.1:c.*474-53A>G	ENSP00000502463.1:n.*474-53A>G
ENST00000675118.1:c.1245-53A>G
ENST00000675389.1:n.32-53A>G
ENST00000675615.1:c.1757-53A>G	ENSP00000502413.1:n.1757-53A>G
ENST00000675648.1:n.1132-53A>G
ENST00000676173.1:n.2502-53A>G
ENST00000676182.1:c.188-53A>G
ENST00000676228.1:c.*1080-53A>G	ENSP00000502375.1:n.*1080-53A>G
ENST00000255078.7:c.1757-53A>G	ENSP00000255078.3:n.1757-53A>G
ENST00000539064.5:n.1516-53A>G
ENST00000541229.5:n.452-53A>G
ENST00000543739.5:n.750-53A>G
ENST00000545475.1:n.353-53A>G
NM_002180.2:c.1757-53A>G , LRG_250t1:c.1757-53A>G	NP_002171.2:n.1757-53A>G
XM_005273974.2:c.746-53A>G	XP_005274031.1:n.746-53A>G
XM_005273975.2:c.629-53A>G	XP_005274032.1:n.629-53A>G
XM_011544994.1:c.524-53A>G	XP_011543296.1:n.524-53A>G
XR_949903.1:n.1859-53A>G
XM_005273975.3:c.629-53A>G	XP_005274032.1:n.629-53A>G
XM_017017669.2:c.746-53A>G	XP_016873158.1:n.746-53A>G
XM_017017670.2:c.746-53A>G	XP_016873159.1:n.746-53A>G
XR_949903.3:n.1855-53A>G
NM_002180.3:c.1757-53A>G MANE Select	NP_002171.2:n.1757-53A>G