Canonical Allele Identifier: CA381653433

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704320C>G (hg19) ; chr11:g.68936852C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936852C>G , CM000673.2:g.68936852C>G	GRCh38
NC_000011.9:g.68704320C>G , CM000673.1:g.68704320C>G	GRCh37
NC_000011.8:g.68460896C>G	NCBI36
NG_007976.1:g.38002C>G , LRG_250:g.38002C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2372C>G MANE Select	ENSP00000255078.4:p.Ala791Gly
ENST00000674675.1:c.587+29C>G
ENST00000674878.1:c.547+69C>G
ENST00000674955.1:c.*1089C>G	ENSP00000502463.1:n.*1089C>G
ENST00000675118.1:c.1860C>G
ENST00000675389.1:n.647C>G
ENST00000675615.1:c.2372C>G	ENSP00000502413.1:p.Ala791Gly
ENST00000675648.1:n.1747C>G
ENST00000675916.1:c.616C>G
ENST00000676173.1:n.3117C>G
ENST00000676182.1:c.803C>G
ENST00000676228.1:c.*1695C>G	ENSP00000502375.1:n.*1695C>G
ENST00000255078.7:c.2372C>G	ENSP00000255078.3:p.Ala791Gly
ENST00000539064.5:n.2131C>G
ENST00000543739.5:n.1365C>G
NM_002180.2:c.2372C>G , LRG_250t1:c.2372C>G	NP_002171.2:p.Ala791Gly
XM_005273974.2:c.1361C>G	XP_005274031.1:p.Ala454Gly
XM_005273975.2:c.1244C>G	XP_005274032.1:p.Ala415Gly
XM_011544994.1:c.1139C>G	XP_011543296.1:p.Ala380Gly
XR_949903.1:n.2474C>G
XM_005273975.3:c.1244C>G	XP_005274032.1:p.Ala415Gly
XM_017017669.2:c.1361C>G	XP_016873158.1:p.Ala454Gly
XM_017017670.2:c.1361C>G	XP_016873159.1:p.Ala454Gly
XR_949903.3:n.2470C>G
NM_002180.3:c.2372C>G MANE Select	NP_002171.2:p.Ala791Gly