Canonical Allele Identifier: CA475194626

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2951571
• ClinVar RCV Id: RCV003812258
• gnomAD v4: 11-68917738-G-C
• MyVariant Identifiers: chr11:g.68685206G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917738G>C , CM000673.2:g.68917738G>C	GRCh38
NC_000011.9:g.68685206G>C , CM000673.1:g.68685206G>C	GRCh37
NC_000011.8:g.68441782G>C	NCBI36
NG_007976.1:g.18888G>C , LRG_250:g.18888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.915G>C MANE Select	ENSP00000255078.4:p.Val305=
ENST00000539224.2:c.1044G>C
ENST00000674745.1:c.3G>C	ENSP00000502738.1:p.Val1=
ENST00000674775.1:n.3G>C
ENST00000674955.1:c.915G>C	ENSP00000502463.1:p.Val305=
ENST00000675118.1:c.403G>C
ENST00000675119.1:c.342G>C	ENSP00000501861.1:n.342G>C
ENST00000675305.1:c.235G>C	ENSP00000502365.1:n.235G>C
ENST00000675464.1:c.198G>C	ENSP00000502650.1:p.Val66=
ENST00000675493.1:n.3G>C
ENST00000675615.1:c.915G>C	ENSP00000502413.1:p.Val305=
ENST00000675648.1:n.290G>C
ENST00000675683.1:c.302G>C
ENST00000675684.1:c.3G>C	ENSP00000502192.1:p.Val1=
ENST00000676173.1:n.959G>C
ENST00000676228.1:c.*238G>C	ENSP00000502375.1:n.*238G>C
ENST00000255078.7:c.915G>C	ENSP00000255078.3:p.Val305=
NM_002180.2:c.915G>C , LRG_250t1:c.915G>C	NP_002171.2:p.Val305=
XM_005273974.2:c.-97G>C	XP_005274031.1:n.-97G>C
XM_005273976.1:c.915G>C	XP_005274033.1:p.Val305=
XR_247198.1:n.1017G>C
XR_949903.1:n.1017G>C
XM_005273976.2:c.915G>C	XP_005274033.1:p.Val305=
XM_017017669.2:c.-97G>C	XP_016873158.1:n.-97G>C
XM_017017670.2:c.-97G>C	XP_016873159.1:n.-97G>C
XM_017017671.2:c.915G>C	XP_016873160.1:p.Val305=
XR_949903.3:n.1013G>C
NM_002180.3:c.915G>C MANE Select	NP_002171.2:p.Val305=