Canonical Allele Identifier: CA223413641

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs766615389
• gnomAD v2: 11-68704302-G-C
• gnomAD v3: 11-68936834-G-C
• gnomAD v4: 11-68936834-G-C
• MyVariant Identifiers: chr11:g.68704302G>C (hg19) ; chr11:g.68936834G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936834G>C , CM000673.2:g.68936834G>C	GRCh38
NC_000011.9:g.68704302G>C , CM000673.1:g.68704302G>C	GRCh37
NC_000011.8:g.68460878G>C	NCBI36
NG_007976.1:g.37984G>C , LRG_250:g.37984G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2354G>C MANE Select	ENSP00000255078.4:p.Arg785Thr
ENST00000674675.1:c.587+11G>C
ENST00000674878.1:c.547+51G>C
ENST00000674955.1:c.*1071G>C	ENSP00000502463.1:n.*1071G>C
ENST00000675118.1:c.1842G>C
ENST00000675389.1:n.629G>C
ENST00000675615.1:c.2354G>C	ENSP00000502413.1:p.Arg785Thr
ENST00000675648.1:n.1729G>C
ENST00000675916.1:c.598G>C
ENST00000676173.1:n.3099G>C
ENST00000676182.1:c.785G>C
ENST00000676228.1:c.*1677G>C	ENSP00000502375.1:n.*1677G>C
ENST00000255078.7:c.2354G>C	ENSP00000255078.3:p.Arg785Thr
ENST00000539064.5:n.2113G>C
ENST00000543739.5:n.1347G>C
NM_002180.2:c.2354G>C , LRG_250t1:c.2354G>C	NP_002171.2:p.Arg785Thr
XM_005273974.2:c.1343G>C	XP_005274031.1:p.Arg448Thr
XM_005273975.2:c.1226G>C	XP_005274032.1:p.Arg409Thr
XM_011544994.1:c.1121G>C	XP_011543296.1:p.Arg374Thr
XR_949903.1:n.2456G>C
XM_005273975.3:c.1226G>C	XP_005274032.1:p.Arg409Thr
XM_017017669.2:c.1343G>C	XP_016873158.1:p.Arg448Thr
XM_017017670.2:c.1343G>C	XP_016873159.1:p.Arg448Thr
XR_949903.3:n.2452G>C
NM_002180.3:c.2354G>C MANE Select	NP_002171.2:p.Arg785Thr