Canonical Allele Identifier: CA381653894

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704483G>C (hg19) ; chr11:g.68937015G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68937015G>C , CM000673.2:g.68937015G>C	GRCh38
NC_000011.9:g.68704483G>C , CM000673.1:g.68704483G>C	GRCh37
NC_000011.8:g.68461059G>C	NCBI36
NG_007976.1:g.38165G>C , LRG_250:g.38165G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2535G>C MANE Select	ENSP00000255078.4:p.Gln845His
ENST00000674675.1:c.680G>C
ENST00000674878.1:c.640G>C
ENST00000675118.1:c.2023G>C
ENST00000675389.1:n.810G>C
ENST00000675615.1:c.2535G>C	ENSP00000502413.1:p.Gln845His
ENST00000675648.1:n.1910G>C
ENST00000675916.1:c.779G>C
ENST00000676173.1:n.3280G>C
ENST00000676182.1:c.966G>C
ENST00000676228.1:c.*1858G>C	ENSP00000502375.1:n.*1858G>C
ENST00000255078.7:c.2535G>C	ENSP00000255078.3:p.Gln845His
ENST00000539064.5:n.2294G>C
ENST00000543739.5:n.1528G>C
NM_002180.2:c.2535G>C , LRG_250t1:c.2535G>C	NP_002171.2:p.Gln845His
XM_005273974.2:c.1524G>C	XP_005274031.1:p.Gln508His
XM_005273975.2:c.1407G>C	XP_005274032.1:p.Gln469His
XM_011544994.1:c.1302G>C	XP_011543296.1:p.Gln434His
XR_949903.1:n.2637G>C
XM_005273975.3:c.1407G>C	XP_005274032.1:p.Gln469His
XM_017017669.2:c.1524G>C	XP_016873158.1:p.Gln508His
XM_017017670.2:c.1524G>C	XP_016873159.1:p.Gln508His
XR_949903.3:n.2633G>C
NM_002180.3:c.2535G>C MANE Select	NP_002171.2:p.Gln845His