Canonical Allele Identifier: CA475204492

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2921596
• ClinVar RCV Id: RCV003782618
• dbSNP Id: rs1218404642
• gnomAD v2: 11-68704414-G-A
• gnomAD v3: 11-68936946-G-A
• gnomAD v4: 11-68936946-G-A
• MyVariant Identifiers: chr11:g.68704414G>A (hg19) ; chr11:g.68936946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936946G>A , CM000673.2:g.68936946G>A	GRCh38
NC_000011.9:g.68704414G>A , CM000673.1:g.68704414G>A	GRCh37
NC_000011.8:g.68460990G>A	NCBI36
NG_007976.1:g.38096G>A , LRG_250:g.38096G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2466G>A MANE Select	ENSP00000255078.4:p.Gln822=
ENST00000674675.1:c.611G>A
ENST00000674878.1:c.571G>A
ENST00000675118.1:c.1954G>A
ENST00000675389.1:n.741G>A
ENST00000675615.1:c.2466G>A	ENSP00000502413.1:p.Gln822=
ENST00000675648.1:n.1841G>A
ENST00000675916.1:c.710G>A
ENST00000676173.1:n.3211G>A
ENST00000676182.1:c.897G>A
ENST00000676228.1:c.*1789G>A	ENSP00000502375.1:n.*1789G>A
ENST00000255078.7:c.2466G>A	ENSP00000255078.3:p.Gln822=
ENST00000539064.5:n.2225G>A
ENST00000543739.5:n.1459G>A
NM_002180.2:c.2466G>A , LRG_250t1:c.2466G>A	NP_002171.2:p.Gln822=
XM_005273974.2:c.1455G>A	XP_005274031.1:p.Gln485=
XM_005273975.2:c.1338G>A	XP_005274032.1:p.Gln446=
XM_011544994.1:c.1233G>A	XP_011543296.1:p.Gln411=
XR_949903.1:n.2568G>A
XM_005273975.3:c.1338G>A	XP_005274032.1:p.Gln446=
XM_017017669.2:c.1455G>A	XP_016873158.1:p.Gln485=
XM_017017670.2:c.1455G>A	XP_016873159.1:p.Gln485=
XR_949903.3:n.2564G>A
NM_002180.3:c.2466G>A MANE Select	NP_002171.2:p.Gln822=