Canonical Allele Identifier: CA600239936

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1247713900
• gnomAD v2: 11-68703657-G-A
• MyVariant Identifiers: chr11:g.68703657G>A (hg19) ; chr11:g.68936189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936189G>A , CM000673.2:g.68936189G>A	GRCh38
NC_000011.9:g.68703657G>A , CM000673.1:g.68703657G>A	GRCh37
NC_000011.8:g.68460233G>A	NCBI36
NG_007976.1:g.37339G>A , LRG_250:g.37339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1757-48G>A MANE Select	ENSP00000255078.4:n.1757-48G>A
ENST00000674955.1:c.*474-48G>A	ENSP00000502463.1:n.*474-48G>A
ENST00000675118.1:c.1245-48G>A
ENST00000675389.1:n.32-48G>A
ENST00000675615.1:c.1757-48G>A	ENSP00000502413.1:n.1757-48G>A
ENST00000675648.1:n.1132-48G>A
ENST00000676173.1:n.2502-48G>A
ENST00000676182.1:c.188-48G>A
ENST00000676228.1:c.*1080-48G>A	ENSP00000502375.1:n.*1080-48G>A
ENST00000255078.7:c.1757-48G>A	ENSP00000255078.3:n.1757-48G>A
ENST00000539064.5:n.1516-48G>A
ENST00000541229.5:n.452-48G>A
ENST00000543739.5:n.750-48G>A
ENST00000545475.1:n.353-48G>A
NM_002180.2:c.1757-48G>A , LRG_250t1:c.1757-48G>A	NP_002171.2:n.1757-48G>A
XM_005273974.2:c.746-48G>A	XP_005274031.1:n.746-48G>A
XM_005273975.2:c.629-48G>A	XP_005274032.1:n.629-48G>A
XM_011544994.1:c.524-48G>A	XP_011543296.1:n.524-48G>A
XR_949903.1:n.1859-48G>A
XM_005273975.3:c.629-48G>A	XP_005274032.1:n.629-48G>A
XM_017017669.2:c.746-48G>A	XP_016873158.1:n.746-48G>A
XM_017017670.2:c.746-48G>A	XP_016873159.1:n.746-48G>A
XR_949903.3:n.1855-48G>A
NM_002180.3:c.1757-48G>A MANE Select	NP_002171.2:n.1757-48G>A