Canonical Allele Identifier: CA381653378

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704300G>C (hg19) ; chr11:g.68936832G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936832G>C , CM000673.2:g.68936832G>C	GRCh38
NC_000011.9:g.68704300G>C , CM000673.1:g.68704300G>C	GRCh37
NC_000011.8:g.68460876G>C	NCBI36
NG_007976.1:g.37982G>C , LRG_250:g.37982G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2352G>C MANE Select	ENSP00000255078.4:p.Lys784Asn
ENST00000674675.1:c.587+9G>C
ENST00000674878.1:c.547+49G>C
ENST00000674955.1:c.*1069G>C	ENSP00000502463.1:n.*1069G>C
ENST00000675118.1:c.1840G>C
ENST00000675389.1:n.627G>C
ENST00000675615.1:c.2352G>C	ENSP00000502413.1:p.Lys784Asn
ENST00000675648.1:n.1727G>C
ENST00000675916.1:c.596G>C
ENST00000676173.1:n.3097G>C
ENST00000676182.1:c.783G>C
ENST00000676228.1:c.*1675G>C	ENSP00000502375.1:n.*1675G>C
ENST00000255078.7:c.2352G>C	ENSP00000255078.3:p.Lys784Asn
ENST00000539064.5:n.2111G>C
ENST00000543739.5:n.1345G>C
NM_002180.2:c.2352G>C , LRG_250t1:c.2352G>C	NP_002171.2:p.Lys784Asn
XM_005273974.2:c.1341G>C	XP_005274031.1:p.Lys447Asn
XM_005273975.2:c.1224G>C	XP_005274032.1:p.Lys408Asn
XM_011544994.1:c.1119G>C	XP_011543296.1:p.Lys373Asn
XR_949903.1:n.2454G>C
XM_005273975.3:c.1224G>C	XP_005274032.1:p.Lys408Asn
XM_017017669.2:c.1341G>C	XP_016873158.1:p.Lys447Asn
XM_017017670.2:c.1341G>C	XP_016873159.1:p.Lys447Asn
XR_949903.3:n.2450G>C
NM_002180.3:c.2352G>C MANE Select	NP_002171.2:p.Lys784Asn