Canonical Allele Identifier: CA381653458

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704329G>C (hg19) ; chr11:g.68936861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936861G>C , CM000673.2:g.68936861G>C	GRCh38
NC_000011.9:g.68704329G>C , CM000673.1:g.68704329G>C	GRCh37
NC_000011.8:g.68460905G>C	NCBI36
NG_007976.1:g.38011G>C , LRG_250:g.38011G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2381G>C MANE Select	ENSP00000255078.4:p.Gly794Ala
ENST00000674675.1:c.587+38G>C
ENST00000674878.1:c.548-62G>C
ENST00000675118.1:c.1869G>C
ENST00000675389.1:n.656G>C
ENST00000675615.1:c.2381G>C	ENSP00000502413.1:p.Gly794Ala
ENST00000675648.1:n.1756G>C
ENST00000675916.1:c.625G>C
ENST00000676173.1:n.3126G>C
ENST00000676182.1:c.812G>C
ENST00000676228.1:c.*1704G>C	ENSP00000502375.1:n.*1704G>C
ENST00000255078.7:c.2381G>C	ENSP00000255078.3:p.Gly794Ala
ENST00000539064.5:n.2140G>C
ENST00000543739.5:n.1374G>C
NM_002180.2:c.2381G>C , LRG_250t1:c.2381G>C	NP_002171.2:p.Gly794Ala
XM_005273974.2:c.1370G>C	XP_005274031.1:p.Gly457Ala
XM_005273975.2:c.1253G>C	XP_005274032.1:p.Gly418Ala
XM_011544994.1:c.1148G>C	XP_011543296.1:p.Gly383Ala
XR_949903.1:n.2483G>C
XM_005273975.3:c.1253G>C	XP_005274032.1:p.Gly418Ala
XM_017017669.2:c.1370G>C	XP_016873158.1:p.Gly457Ala
XM_017017670.2:c.1370G>C	XP_016873159.1:p.Gly457Ala
XR_949903.3:n.2479G>C
NM_002180.3:c.2381G>C MANE Select	NP_002171.2:p.Gly794Ala