Canonical Allele Identifier: CA381644882

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68685277A>C (hg19) ; chr11:g.68917809A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917809A>C , CM000673.2:g.68917809A>C	GRCh38
NC_000011.9:g.68685277A>C , CM000673.1:g.68685277A>C	GRCh37
NC_000011.8:g.68441853A>C	NCBI36
NG_007976.1:g.18959A>C , LRG_250:g.18959A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.986A>C MANE Select	ENSP00000255078.4:p.Glu329Ala
ENST00000674745.1:c.74A>C	ENSP00000502738.1:p.Glu25Ala
ENST00000674775.1:n.74A>C
ENST00000674955.1:c.986A>C	ENSP00000502463.1:p.Glu329Ala
ENST00000675118.1:c.474A>C
ENST00000675119.1:c.413A>C	ENSP00000501861.1:n.413A>C
ENST00000675305.1:c.306A>C	ENSP00000502365.1:n.306A>C
ENST00000675464.1:c.269A>C	ENSP00000502650.1:p.Glu90Ala
ENST00000675493.1:n.74A>C
ENST00000675615.1:c.986A>C	ENSP00000502413.1:p.Glu329Ala
ENST00000675648.1:n.361A>C
ENST00000675683.1:c.373A>C
ENST00000675684.1:c.74A>C	ENSP00000502192.1:p.Glu25Ala
ENST00000676173.1:n.1030A>C
ENST00000676228.1:c.*309A>C	ENSP00000502375.1:n.*309A>C
ENST00000255078.7:c.986A>C	ENSP00000255078.3:p.Glu329Ala
NM_002180.2:c.986A>C , LRG_250t1:c.986A>C	NP_002171.2:p.Glu329Ala
XM_005273974.2:c.-26A>C	XP_005274031.1:n.-26A>C
XM_005273976.1:c.986A>C	XP_005274033.1:p.Glu329Ala
XR_247198.1:n.1088A>C
XR_949903.1:n.1088A>C
XM_005273976.2:c.986A>C	XP_005274033.1:p.Glu329Ala
XM_017017669.2:c.-26A>C	XP_016873158.1:n.-26A>C
XM_017017670.2:c.-26A>C	XP_016873159.1:n.-26A>C
XM_017017671.2:c.986A>C	XP_016873160.1:p.Glu329Ala
XR_949903.3:n.1084A>C
NM_002180.3:c.986A>C MANE Select	NP_002171.2:p.Glu329Ala