Canonical Allele Identifier: CA381653054

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936696-G-C
• MyVariant Identifiers: chr11:g.68704164G>C (hg19) ; chr11:g.68936696G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936696G>C , CM000673.2:g.68936696G>C	GRCh38
NC_000011.9:g.68704164G>C , CM000673.1:g.68704164G>C	GRCh37
NC_000011.8:g.68460740G>C	NCBI36
NG_007976.1:g.37846G>C , LRG_250:g.37846G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2216G>C MANE Select	ENSP00000255078.4:p.Ser739Thr
ENST00000674675.1:c.460G>C
ENST00000674878.1:c.460G>C
ENST00000674955.1:c.*933G>C	ENSP00000502463.1:n.*933G>C
ENST00000675118.1:c.1704G>C
ENST00000675389.1:n.491G>C
ENST00000675615.1:c.2216G>C	ENSP00000502413.1:p.Ser739Thr
ENST00000675648.1:n.1591G>C
ENST00000675916.1:c.460G>C
ENST00000676173.1:n.2961G>C
ENST00000676182.1:c.647G>C
ENST00000676228.1:c.*1539G>C	ENSP00000502375.1:n.*1539G>C
ENST00000255078.7:c.2216G>C	ENSP00000255078.3:p.Ser739Thr
ENST00000539064.5:n.1975G>C
ENST00000543739.5:n.1209G>C
NM_002180.2:c.2216G>C , LRG_250t1:c.2216G>C	NP_002171.2:p.Ser739Thr
XM_005273974.2:c.1205G>C	XP_005274031.1:p.Ser402Thr
XM_005273975.2:c.1088G>C	XP_005274032.1:p.Ser363Thr
XM_011544994.1:c.983G>C	XP_011543296.1:p.Ser328Thr
XR_949903.1:n.2318G>C
XM_005273975.3:c.1088G>C	XP_005274032.1:p.Ser363Thr
XM_017017669.2:c.1205G>C	XP_016873158.1:p.Ser402Thr
XM_017017670.2:c.1205G>C	XP_016873159.1:p.Ser402Thr
XR_949903.3:n.2314G>C
NM_002180.3:c.2216G>C MANE Select	NP_002171.2:p.Ser739Thr