Canonical Allele Identifier: CA381649721

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701285A>G (hg19) ; chr11:g.68933817A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933817A>G , CM000673.2:g.68933817A>G	GRCh38
NC_000011.9:g.68701285A>G , CM000673.1:g.68701285A>G	GRCh37
NC_000011.8:g.68457861A>G	NCBI36
NG_007976.1:g.34967A>G , LRG_250:g.34967A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1441A>G MANE Select	ENSP00000255078.4:p.Thr481Ala
ENST00000674955.1:c.*158A>G	ENSP00000502463.1:n.*158A>G
ENST00000675118.1:c.929A>G
ENST00000675205.1:n.183+336A>G
ENST00000675615.1:c.1441A>G	ENSP00000502413.1:p.Thr481Ala
ENST00000675648.1:n.816A>G
ENST00000675997.1:n.113-647A>G
ENST00000676173.1:n.2186A>G
ENST00000676228.1:c.*764A>G	ENSP00000502375.1:n.*764A>G
ENST00000255078.7:c.1441A>G	ENSP00000255078.3:p.Thr481Ala
ENST00000537458.5:n.558A>G
ENST00000539064.5:n.1200A>G
ENST00000541229.5:n.136A>G
ENST00000543739.5:n.558A>G
NM_002180.2:c.1441A>G , LRG_250t1:c.1441A>G	NP_002171.2:p.Thr481Ala
XM_005273974.2:c.430A>G	XP_005274031.1:p.Thr144Ala
XM_005273975.2:c.313A>G	XP_005274032.1:p.Thr105Ala
XM_011544994.1:c.208A>G	XP_011543296.1:p.Thr70Ala
XR_949903.1:n.1543A>G
XM_005273975.3:c.313A>G	XP_005274032.1:p.Thr105Ala
XM_017017669.2:c.430A>G	XP_016873158.1:p.Thr144Ala
XM_017017670.2:c.430A>G	XP_016873159.1:p.Thr144Ala
XM_017017671.2:c.1441A>G	XP_016873160.1:p.Thr481Ala
XR_949903.3:n.1539A>G
NM_002180.3:c.1441A>G MANE Select	NP_002171.2:p.Thr481Ala