Canonical Allele Identifier: CA381651511

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703726A>C (hg19) ; chr11:g.68936258A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936258A>C , CM000673.2:g.68936258A>C	GRCh38
NC_000011.9:g.68703726A>C , CM000673.1:g.68703726A>C	GRCh37
NC_000011.8:g.68460302A>C	NCBI36
NG_007976.1:g.37408A>C , LRG_250:g.37408A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1778A>C MANE Select	ENSP00000255078.4:p.Glu593Ala
ENST00000674675.1:c.22A>C
ENST00000674878.1:c.22A>C
ENST00000674955.1:c.*495A>C	ENSP00000502463.1:n.*495A>C
ENST00000675118.1:c.1266A>C
ENST00000675389.1:n.53A>C
ENST00000675615.1:c.1778A>C	ENSP00000502413.1:p.Glu593Ala
ENST00000675648.1:n.1153A>C
ENST00000675916.1:c.22A>C
ENST00000676173.1:n.2523A>C
ENST00000676182.1:c.209A>C
ENST00000676228.1:c.*1101A>C	ENSP00000502375.1:n.*1101A>C
ENST00000255078.7:c.1778A>C	ENSP00000255078.3:p.Glu593Ala
ENST00000539064.5:n.1537A>C
ENST00000541229.5:n.473A>C
ENST00000543739.5:n.771A>C
ENST00000545475.1:n.374A>C
NM_002180.2:c.1778A>C , LRG_250t1:c.1778A>C	NP_002171.2:p.Glu593Ala
XM_005273974.2:c.767A>C	XP_005274031.1:p.Glu256Ala
XM_005273975.2:c.650A>C	XP_005274032.1:p.Glu217Ala
XM_011544994.1:c.545A>C	XP_011543296.1:p.Glu182Ala
XR_949903.1:n.1880A>C
XM_005273975.3:c.650A>C	XP_005274032.1:p.Glu217Ala
XM_017017669.2:c.767A>C	XP_016873158.1:p.Glu256Ala
XM_017017670.2:c.767A>C	XP_016873159.1:p.Glu256Ala
XR_949903.3:n.1876A>C
NM_002180.3:c.1778A>C MANE Select	NP_002171.2:p.Glu593Ala