Canonical Allele Identifier: CA381652838

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1225576371
• gnomAD v2: 11-68704063-A-C
• gnomAD v4: 11-68936595-A-C
• MyVariant Identifiers: chr11:g.68704063A>C (hg19) ; chr11:g.68936595A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936595A>C , CM000673.2:g.68936595A>C	GRCh38
NC_000011.9:g.68704063A>C , CM000673.1:g.68704063A>C	GRCh37
NC_000011.8:g.68460639A>C	NCBI36
NG_007976.1:g.37745A>C , LRG_250:g.37745A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2115A>C MANE Select	ENSP00000255078.4:p.Glu705Asp
ENST00000674675.1:c.359A>C
ENST00000674878.1:c.359A>C
ENST00000674955.1:c.*832A>C	ENSP00000502463.1:n.*832A>C
ENST00000675118.1:c.1603A>C
ENST00000675389.1:n.390A>C
ENST00000675615.1:c.2115A>C	ENSP00000502413.1:p.Glu705Asp
ENST00000675648.1:n.1490A>C
ENST00000675916.1:c.359A>C
ENST00000676173.1:n.2860A>C
ENST00000676182.1:c.546A>C
ENST00000676228.1:c.*1438A>C	ENSP00000502375.1:n.*1438A>C
ENST00000255078.7:c.2115A>C	ENSP00000255078.3:p.Glu705Asp
ENST00000539064.5:n.1874A>C
ENST00000543739.5:n.1108A>C
NM_002180.2:c.2115A>C , LRG_250t1:c.2115A>C	NP_002171.2:p.Glu705Asp
XM_005273974.2:c.1104A>C	XP_005274031.1:p.Glu368Asp
XM_005273975.2:c.987A>C	XP_005274032.1:p.Glu329Asp
XM_011544994.1:c.882A>C	XP_011543296.1:p.Glu294Asp
XR_949903.1:n.2217A>C
XM_005273975.3:c.987A>C	XP_005274032.1:p.Glu329Asp
XM_017017669.2:c.1104A>C	XP_016873158.1:p.Glu368Asp
XM_017017670.2:c.1104A>C	XP_016873159.1:p.Glu368Asp
XR_949903.3:n.2213A>C
NM_002180.3:c.2115A>C MANE Select	NP_002171.2:p.Glu705Asp