Canonical Allele Identifier: CA381653048

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704161C>T (hg19) ; chr11:g.68936693C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936693C>T , CM000673.2:g.68936693C>T	GRCh38
NC_000011.9:g.68704161C>T , CM000673.1:g.68704161C>T	GRCh37
NC_000011.8:g.68460737C>T	NCBI36
NG_007976.1:g.37843C>T , LRG_250:g.37843C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2213C>T MANE Select	ENSP00000255078.4:p.Ala738Val
ENST00000674675.1:c.457C>T
ENST00000674878.1:c.457C>T
ENST00000674955.1:c.*930C>T	ENSP00000502463.1:n.*930C>T
ENST00000675118.1:c.1701C>T
ENST00000675389.1:n.488C>T
ENST00000675615.1:c.2213C>T	ENSP00000502413.1:p.Ala738Val
ENST00000675648.1:n.1588C>T
ENST00000675916.1:c.457C>T
ENST00000676173.1:n.2958C>T
ENST00000676182.1:c.644C>T
ENST00000676228.1:c.*1536C>T	ENSP00000502375.1:n.*1536C>T
ENST00000255078.7:c.2213C>T	ENSP00000255078.3:p.Ala738Val
ENST00000539064.5:n.1972C>T
ENST00000543739.5:n.1206C>T
NM_002180.2:c.2213C>T , LRG_250t1:c.2213C>T	NP_002171.2:p.Ala738Val
XM_005273974.2:c.1202C>T	XP_005274031.1:p.Ala401Val
XM_005273975.2:c.1085C>T	XP_005274032.1:p.Ala362Val
XM_011544994.1:c.980C>T	XP_011543296.1:p.Ala327Val
XR_949903.1:n.2315C>T
XM_005273975.3:c.1085C>T	XP_005274032.1:p.Ala362Val
XM_017017669.2:c.1202C>T	XP_016873158.1:p.Ala401Val
XM_017017670.2:c.1202C>T	XP_016873159.1:p.Ala401Val
XR_949903.3:n.2311C>T
NM_002180.3:c.2213C>T MANE Select	NP_002171.2:p.Ala738Val