Canonical Allele Identifier: CA475204487

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1339450070
• gnomAD v2: 11-68704408-G-A
• MyVariant Identifiers: chr11:g.68704408G>A (hg19) ; chr11:g.68936940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936940G>A , CM000673.2:g.68936940G>A	GRCh38
NC_000011.9:g.68704408G>A , CM000673.1:g.68704408G>A	GRCh37
NC_000011.8:g.68460984G>A	NCBI36
NG_007976.1:g.38090G>A , LRG_250:g.38090G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2460G>A MANE Select	ENSP00000255078.4:p.Arg820=
ENST00000674675.1:c.605G>A
ENST00000674878.1:c.565G>A
ENST00000675118.1:c.1948G>A
ENST00000675389.1:n.735G>A
ENST00000675615.1:c.2460G>A	ENSP00000502413.1:p.Arg820=
ENST00000675648.1:n.1835G>A
ENST00000675916.1:c.704G>A
ENST00000676173.1:n.3205G>A
ENST00000676182.1:c.891G>A
ENST00000676228.1:c.*1783G>A	ENSP00000502375.1:n.*1783G>A
ENST00000255078.7:c.2460G>A	ENSP00000255078.3:p.Arg820=
ENST00000539064.5:n.2219G>A
ENST00000543739.5:n.1453G>A
NM_002180.2:c.2460G>A , LRG_250t1:c.2460G>A	NP_002171.2:p.Arg820=
XM_005273974.2:c.1449G>A	XP_005274031.1:p.Arg483=
XM_005273975.2:c.1332G>A	XP_005274032.1:p.Arg444=
XM_011544994.1:c.1227G>A	XP_011543296.1:p.Arg409=
XR_949903.1:n.2562G>A
XM_005273975.3:c.1332G>A	XP_005274032.1:p.Arg444=
XM_017017669.2:c.1449G>A	XP_016873158.1:p.Arg483=
XM_017017670.2:c.1449G>A	XP_016873159.1:p.Arg483=
XR_949903.3:n.2558G>A
NM_002180.3:c.2460G>A MANE Select	NP_002171.2:p.Arg820=