Canonical Allele Identifier: CA381651938

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703853A>C (hg19) ; chr11:g.68936385A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936385A>C , CM000673.2:g.68936385A>C	GRCh38
NC_000011.9:g.68703853A>C , CM000673.1:g.68703853A>C	GRCh37
NC_000011.8:g.68460429A>C	NCBI36
NG_007976.1:g.37535A>C , LRG_250:g.37535A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1905A>C MANE Select	ENSP00000255078.4:p.Glu635Asp
ENST00000674675.1:c.149A>C
ENST00000674878.1:c.149A>C
ENST00000674955.1:c.*622A>C	ENSP00000502463.1:n.*622A>C
ENST00000675118.1:c.1393A>C
ENST00000675389.1:n.180A>C
ENST00000675615.1:c.1905A>C	ENSP00000502413.1:p.Glu635Asp
ENST00000675648.1:n.1280A>C
ENST00000675916.1:c.149A>C
ENST00000676173.1:n.2650A>C
ENST00000676182.1:c.336A>C
ENST00000676228.1:c.*1228A>C	ENSP00000502375.1:n.*1228A>C
ENST00000255078.7:c.1905A>C	ENSP00000255078.3:p.Glu635Asp
ENST00000539064.5:n.1664A>C
ENST00000543739.5:n.898A>C
ENST00000545475.1:n.501A>C
NM_002180.2:c.1905A>C , LRG_250t1:c.1905A>C	NP_002171.2:p.Glu635Asp
XM_005273974.2:c.894A>C	XP_005274031.1:p.Glu298Asp
XM_005273975.2:c.777A>C	XP_005274032.1:p.Glu259Asp
XM_011544994.1:c.672A>C	XP_011543296.1:p.Glu224Asp
XR_949903.1:n.2007A>C
XM_005273975.3:c.777A>C	XP_005274032.1:p.Glu259Asp
XM_017017669.2:c.894A>C	XP_016873158.1:p.Glu298Asp
XM_017017670.2:c.894A>C	XP_016873159.1:p.Glu298Asp
XR_949903.3:n.2003A>C
NM_002180.3:c.1905A>C MANE Select	NP_002171.2:p.Glu635Asp