Canonical Allele Identifier: CA381653954

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs2154008950
• gnomAD v4: 11-68937031-A-C
• MyVariant Identifiers: chr11:g.68704499A>C (hg19) ; chr11:g.68937031A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68937031A>C , CM000673.2:g.68937031A>C	GRCh38
NC_000011.9:g.68704499A>C , CM000673.1:g.68704499A>C	GRCh37
NC_000011.8:g.68461075A>C	NCBI36
NG_007976.1:g.38181A>C , LRG_250:g.38181A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2551A>C MANE Select	ENSP00000255078.4:p.Lys851Gln
ENST00000674675.1:c.696A>C
ENST00000674878.1:c.656A>C
ENST00000675118.1:c.2039A>C
ENST00000675389.1:n.826A>C
ENST00000675615.1:c.2551A>C	ENSP00000502413.1:p.Lys851Gln
ENST00000675648.1:n.1926A>C
ENST00000675916.1:c.795A>C
ENST00000676173.1:n.3296A>C
ENST00000676182.1:c.982A>C
ENST00000676228.1:c.*1874A>C	ENSP00000502375.1:n.*1874A>C
ENST00000255078.7:c.2551A>C	ENSP00000255078.3:p.Lys851Gln
ENST00000539064.5:n.2310A>C
ENST00000543739.5:n.1544A>C
NM_002180.2:c.2551A>C , LRG_250t1:c.2551A>C	NP_002171.2:p.Lys851Gln
XM_005273974.2:c.1540A>C	XP_005274031.1:p.Lys514Gln
XM_005273975.2:c.1423A>C	XP_005274032.1:p.Lys475Gln
XM_011544994.1:c.1318A>C	XP_011543296.1:p.Lys440Gln
XR_949903.1:n.2653A>C
XM_005273975.3:c.1423A>C	XP_005274032.1:p.Lys475Gln
XM_017017669.2:c.1540A>C	XP_016873158.1:p.Lys514Gln
XM_017017670.2:c.1540A>C	XP_016873159.1:p.Lys514Gln
XR_949903.3:n.2649A>C
NM_002180.3:c.2551A>C MANE Select	NP_002171.2:p.Lys851Gln