Canonical Allele Identifier: CA475279657

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1560556
• ClinVar RCV Id: RCV002209185
• dbSNP Id: rs1342765347
• gnomAD v3: 11-68936601-A-C
• gnomAD v4: 11-68936601-A-C
• MyVariant Identifiers: chr11:g.68704069A>C (hg19) ; chr11:g.68936601A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936601A>C , CM000673.2:g.68936601A>C	GRCh38
NC_000011.9:g.68704069A>C , CM000673.1:g.68704069A>C	GRCh37
NC_000011.8:g.68460645A>C	NCBI36
NG_007976.1:g.37751A>C , LRG_250:g.37751A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2121A>C MANE Select	ENSP00000255078.4:p.Pro707=
ENST00000674675.1:c.365A>C
ENST00000674878.1:c.365A>C
ENST00000674955.1:c.*838A>C	ENSP00000502463.1:n.*838A>C
ENST00000675118.1:c.1609A>C
ENST00000675389.1:n.396A>C
ENST00000675615.1:c.2121A>C	ENSP00000502413.1:p.Pro707=
ENST00000675648.1:n.1496A>C
ENST00000675916.1:c.365A>C
ENST00000676173.1:n.2866A>C
ENST00000676182.1:c.552A>C
ENST00000676228.1:c.*1444A>C	ENSP00000502375.1:n.*1444A>C
ENST00000255078.7:c.2121A>C	ENSP00000255078.3:p.Pro707=
ENST00000539064.5:n.1880A>C
ENST00000543739.5:n.1114A>C
NM_002180.2:c.2121A>C , LRG_250t1:c.2121A>C	NP_002171.2:p.Pro707=
XM_005273974.2:c.1110A>C	XP_005274031.1:p.Pro370=
XM_005273975.2:c.993A>C	XP_005274032.1:p.Pro331=
XM_011544994.1:c.888A>C	XP_011543296.1:p.Pro296=
XR_949903.1:n.2223A>C
XM_005273975.3:c.993A>C	XP_005274032.1:p.Pro331=
XM_017017669.2:c.1110A>C	XP_016873158.1:p.Pro370=
XM_017017670.2:c.1110A>C	XP_016873159.1:p.Pro370=
XR_949903.3:n.2219A>C
NM_002180.3:c.2121A>C MANE Select	NP_002171.2:p.Pro707=