Canonical Allele Identifier: CA475200650

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1109895
• ClinVar RCV Id: RCV001435939
• dbSNP Id: rs1302845532
• gnomAD v3: 11-68933470-G-A
• gnomAD v4: 11-68933470-G-A
• MyVariant Identifiers: chr11:g.68700938G>A (hg19) ; chr11:g.68933470G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933470G>A , CM000673.2:g.68933470G>A	GRCh38
NC_000011.9:g.68700938G>A , CM000673.1:g.68700938G>A	GRCh37
NC_000011.8:g.68457514G>A	NCBI36
NG_007976.1:g.34620G>A , LRG_250:g.34620G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1407G>A MANE Select	ENSP00000255078.4:p.Arg469=
ENST00000536803.2:n.318G>A
ENST00000674955.1:c.*124G>A	ENSP00000502463.1:n.*124G>A
ENST00000675118.1:c.895G>A
ENST00000675205.1:n.172G>A
ENST00000675310.1:n.544G>A
ENST00000675615.1:c.1407G>A	ENSP00000502413.1:p.Arg469=
ENST00000675648.1:n.782G>A
ENST00000675997.1:n.113-994G>A
ENST00000676149.1:n.481G>A
ENST00000676173.1:n.2152G>A
ENST00000676228.1:c.*730G>A	ENSP00000502375.1:n.*730G>A
ENST00000255078.7:c.1407G>A	ENSP00000255078.3:p.Arg469=
ENST00000537458.5:n.524G>A
ENST00000539064.5:n.1166G>A
ENST00000543739.5:n.524G>A
NM_002180.2:c.1407G>A , LRG_250t1:c.1407G>A	NP_002171.2:p.Arg469=
XM_005273974.2:c.396G>A	XP_005274031.1:p.Arg132=
XM_005273975.2:c.279G>A	XP_005274032.1:p.Arg93=
XM_011544994.1:c.174G>A	XP_011543296.1:p.Arg58=
XR_949903.1:n.1509G>A
XM_005273975.3:c.279G>A	XP_005274032.1:p.Arg93=
XM_017017669.2:c.396G>A	XP_016873158.1:p.Arg132=
XM_017017670.2:c.396G>A	XP_016873159.1:p.Arg132=
XM_017017671.2:c.1407G>A	XP_016873160.1:p.Arg469=
XR_949903.3:n.1505G>A
NM_002180.3:c.1407G>A MANE Select	NP_002171.2:p.Arg469=