Canonical Allele Identifier: CA381653303

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704275A>C (hg19) ; chr11:g.68936807A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936807A>C , CM000673.2:g.68936807A>C	GRCh38
NC_000011.9:g.68704275A>C , CM000673.1:g.68704275A>C	GRCh37
NC_000011.8:g.68460851A>C	NCBI36
NG_007976.1:g.37957A>C , LRG_250:g.37957A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2327A>C MANE Select	ENSP00000255078.4:p.Lys776Thr
ENST00000674675.1:c.571A>C
ENST00000674878.1:c.547+24A>C
ENST00000674955.1:c.*1044A>C	ENSP00000502463.1:n.*1044A>C
ENST00000675118.1:c.1815A>C
ENST00000675389.1:n.602A>C
ENST00000675615.1:c.2327A>C	ENSP00000502413.1:p.Lys776Thr
ENST00000675648.1:n.1702A>C
ENST00000675916.1:c.571A>C
ENST00000676173.1:n.3072A>C
ENST00000676182.1:c.758A>C
ENST00000676228.1:c.*1650A>C	ENSP00000502375.1:n.*1650A>C
ENST00000255078.7:c.2327A>C	ENSP00000255078.3:p.Lys776Thr
ENST00000539064.5:n.2086A>C
ENST00000543739.5:n.1320A>C
NM_002180.2:c.2327A>C , LRG_250t1:c.2327A>C	NP_002171.2:p.Lys776Thr
XM_005273974.2:c.1316A>C	XP_005274031.1:p.Lys439Thr
XM_005273975.2:c.1199A>C	XP_005274032.1:p.Lys400Thr
XM_011544994.1:c.1094A>C	XP_011543296.1:p.Lys365Thr
XR_949903.1:n.2429A>C
XM_005273975.3:c.1199A>C	XP_005274032.1:p.Lys400Thr
XM_017017669.2:c.1316A>C	XP_016873158.1:p.Lys439Thr
XM_017017670.2:c.1316A>C	XP_016873159.1:p.Lys439Thr
XR_949903.3:n.2425A>C
NM_002180.3:c.2327A>C MANE Select	NP_002171.2:p.Lys776Thr