Canonical Allele Identifier: CA381653262

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704257A>C (hg19) ; chr11:g.68936789A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936789A>C , CM000673.2:g.68936789A>C	GRCh38
NC_000011.9:g.68704257A>C , CM000673.1:g.68704257A>C	GRCh37
NC_000011.8:g.68460833A>C	NCBI36
NG_007976.1:g.37939A>C , LRG_250:g.37939A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2309A>C MANE Select	ENSP00000255078.4:p.Asp770Ala
ENST00000674675.1:c.553A>C
ENST00000674878.1:c.547+6A>C
ENST00000674955.1:c.*1026A>C	ENSP00000502463.1:n.*1026A>C
ENST00000675118.1:c.1797A>C
ENST00000675389.1:n.584A>C
ENST00000675615.1:c.2309A>C	ENSP00000502413.1:p.Asp770Ala
ENST00000675648.1:n.1684A>C
ENST00000675916.1:c.553A>C
ENST00000676173.1:n.3054A>C
ENST00000676182.1:c.740A>C
ENST00000676228.1:c.*1632A>C	ENSP00000502375.1:n.*1632A>C
ENST00000255078.7:c.2309A>C	ENSP00000255078.3:p.Asp770Ala
ENST00000539064.5:n.2068A>C
ENST00000543739.5:n.1302A>C
NM_002180.2:c.2309A>C , LRG_250t1:c.2309A>C	NP_002171.2:p.Asp770Ala
XM_005273974.2:c.1298A>C	XP_005274031.1:p.Asp433Ala
XM_005273975.2:c.1181A>C	XP_005274032.1:p.Asp394Ala
XM_011544994.1:c.1076A>C	XP_011543296.1:p.Asp359Ala
XR_949903.1:n.2411A>C
XM_005273975.3:c.1181A>C	XP_005274032.1:p.Asp394Ala
XM_017017669.2:c.1298A>C	XP_016873158.1:p.Asp433Ala
XM_017017670.2:c.1298A>C	XP_016873159.1:p.Asp433Ala
XR_949903.3:n.2407A>C
NM_002180.3:c.2309A>C MANE Select	NP_002171.2:p.Asp770Ala