Canonical Allele Identifier: CA381653070

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1859546599
• MyVariant Identifiers: chr11:g.68704171G>C (hg19) ; chr11:g.68936703G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936703G>C , CM000673.2:g.68936703G>C	GRCh38
NC_000011.9:g.68704171G>C , CM000673.1:g.68704171G>C	GRCh37
NC_000011.8:g.68460747G>C	NCBI36
NG_007976.1:g.37853G>C , LRG_250:g.37853G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2223G>C MANE Select	ENSP00000255078.4:p.Lys741Asn
ENST00000674675.1:c.467G>C
ENST00000674878.1:c.467G>C
ENST00000674955.1:c.*940G>C	ENSP00000502463.1:n.*940G>C
ENST00000675118.1:c.1711G>C
ENST00000675389.1:n.498G>C
ENST00000675615.1:c.2223G>C	ENSP00000502413.1:p.Lys741Asn
ENST00000675648.1:n.1598G>C
ENST00000675916.1:c.467G>C
ENST00000676173.1:n.2968G>C
ENST00000676182.1:c.654G>C
ENST00000676228.1:c.*1546G>C	ENSP00000502375.1:n.*1546G>C
ENST00000255078.7:c.2223G>C	ENSP00000255078.3:p.Lys741Asn
ENST00000539064.5:n.1982G>C
ENST00000543739.5:n.1216G>C
NM_002180.2:c.2223G>C , LRG_250t1:c.2223G>C	NP_002171.2:p.Lys741Asn
XM_005273974.2:c.1212G>C	XP_005274031.1:p.Lys404Asn
XM_005273975.2:c.1095G>C	XP_005274032.1:p.Lys365Asn
XM_011544994.1:c.990G>C	XP_011543296.1:p.Lys330Asn
XR_949903.1:n.2325G>C
XM_005273975.3:c.1095G>C	XP_005274032.1:p.Lys365Asn
XM_017017669.2:c.1212G>C	XP_016873158.1:p.Lys404Asn
XM_017017670.2:c.1212G>C	XP_016873159.1:p.Lys404Asn
XR_949903.3:n.2321G>C
NM_002180.3:c.2223G>C MANE Select	NP_002171.2:p.Lys741Asn