Canonical Allele Identifier: CA475204407

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 466588
• ClinVar RCV Id: RCV000539971 ; RCV002413543
• dbSNP Id: rs1555247978
• gnomAD v4: 11-68936418-T-C
• MyVariant Identifiers: chr11:g.68703886T>C (hg19) ; chr11:g.68936418T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936418T>C , CM000673.2:g.68936418T>C	GRCh38
NC_000011.9:g.68703886T>C , CM000673.1:g.68703886T>C	GRCh37
NC_000011.8:g.68460462T>C	NCBI36
NG_007976.1:g.37568T>C , LRG_250:g.37568T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1938T>C MANE Select	ENSP00000255078.4:p.Ile646=
ENST00000674675.1:c.182T>C
ENST00000674878.1:c.182T>C
ENST00000674955.1:c.*655T>C	ENSP00000502463.1:n.*655T>C
ENST00000675118.1:c.1426T>C
ENST00000675389.1:n.213T>C
ENST00000675615.1:c.1938T>C	ENSP00000502413.1:p.Ile646=
ENST00000675648.1:n.1313T>C
ENST00000675916.1:c.182T>C
ENST00000676173.1:n.2683T>C
ENST00000676182.1:c.369T>C
ENST00000676228.1:c.*1261T>C	ENSP00000502375.1:n.*1261T>C
ENST00000255078.7:c.1938T>C	ENSP00000255078.3:p.Ile646=
ENST00000539064.5:n.1697T>C
ENST00000543739.5:n.931T>C
ENST00000545475.1:n.534T>C
NM_002180.2:c.1938T>C , LRG_250t1:c.1938T>C	NP_002171.2:p.Ile646=
XM_005273974.2:c.927T>C	XP_005274031.1:p.Ile309=
XM_005273975.2:c.810T>C	XP_005274032.1:p.Ile270=
XM_011544994.1:c.705T>C	XP_011543296.1:p.Ile235=
XR_949903.1:n.2040T>C
XM_005273975.3:c.810T>C	XP_005274032.1:p.Ile270=
XM_017017669.2:c.927T>C	XP_016873158.1:p.Ile309=
XM_017017670.2:c.927T>C	XP_016873159.1:p.Ile309=
XR_949903.3:n.2036T>C
NM_002180.3:c.1938T>C MANE Select	NP_002171.2:p.Ile646=