Canonical Allele Identifier: CA381644874

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68685274A>C (hg19) ; chr11:g.68917806A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917806A>C , CM000673.2:g.68917806A>C	GRCh38
NC_000011.9:g.68685274A>C , CM000673.1:g.68685274A>C	GRCh37
NC_000011.8:g.68441850A>C	NCBI36
NG_007976.1:g.18956A>C , LRG_250:g.18956A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.983A>C MANE Select	ENSP00000255078.4:p.Lys328Thr
ENST00000674745.1:c.71A>C	ENSP00000502738.1:p.Lys24Thr
ENST00000674775.1:n.71A>C
ENST00000674955.1:c.983A>C	ENSP00000502463.1:p.Lys328Thr
ENST00000675118.1:c.471A>C
ENST00000675119.1:c.410A>C	ENSP00000501861.1:n.410A>C
ENST00000675305.1:c.303A>C	ENSP00000502365.1:n.303A>C
ENST00000675464.1:c.266A>C	ENSP00000502650.1:p.Lys89Thr
ENST00000675493.1:n.71A>C
ENST00000675615.1:c.983A>C	ENSP00000502413.1:p.Lys328Thr
ENST00000675648.1:n.358A>C
ENST00000675683.1:c.370A>C
ENST00000675684.1:c.71A>C	ENSP00000502192.1:p.Lys24Thr
ENST00000676173.1:n.1027A>C
ENST00000676228.1:c.*306A>C	ENSP00000502375.1:n.*306A>C
ENST00000255078.7:c.983A>C	ENSP00000255078.3:p.Lys328Thr
NM_002180.2:c.983A>C , LRG_250t1:c.983A>C	NP_002171.2:p.Lys328Thr
XM_005273974.2:c.-29A>C	XP_005274031.1:n.-29A>C
XM_005273976.1:c.983A>C	XP_005274033.1:p.Lys328Thr
XR_247198.1:n.1085A>C
XR_949903.1:n.1085A>C
XM_005273976.2:c.983A>C	XP_005274033.1:p.Lys328Thr
XM_017017669.2:c.-29A>C	XP_016873158.1:n.-29A>C
XM_017017670.2:c.-29A>C	XP_016873159.1:n.-29A>C
XM_017017671.2:c.983A>C	XP_016873160.1:p.Lys328Thr
XR_949903.3:n.1081A>C
NM_002180.3:c.983A>C MANE Select	NP_002171.2:p.Lys328Thr