Canonical Allele Identifier: CA381644239

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68682301G>A (hg19) ; chr11:g.68914833G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914833G>A , CM000673.2:g.68914833G>A	GRCh38
NC_000011.9:g.68682301G>A , CM000673.1:g.68682301G>A	GRCh37
NC_000011.8:g.68438877G>A	NCBI36
NG_007976.1:g.15983G>A , LRG_250:g.15983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.722G>A MANE Select	ENSP00000255078.4:p.Cys241Tyr
ENST00000539224.2:c.851G>A
ENST00000674955.1:c.722G>A	ENSP00000502463.1:p.Cys241Tyr
ENST00000675118.1:c.69G>A
ENST00000675119.1:c.11G>A	ENSP00000501861.1:p.Cys4Tyr
ENST00000675305.1:c.11G>A	ENSP00000502365.1:p.Cys4Tyr
ENST00000675464.1:c.11G>A	ENSP00000502650.1:p.Cys4Tyr
ENST00000675615.1:c.722G>A	ENSP00000502413.1:p.Cys241Tyr
ENST00000675683.1:c.109G>A
ENST00000676173.1:n.766G>A
ENST00000676228.1:c.*45G>A	ENSP00000502375.1:n.*45G>A
ENST00000676239.1:n.36G>A
ENST00000255078.7:c.722G>A	ENSP00000255078.3:p.Cys241Tyr
ENST00000539224.1:c.*45G>A	ENSP00000440465.1:n.*45G>A
NM_002180.2:c.722G>A , LRG_250t1:c.722G>A	NP_002171.2:p.Cys241Tyr
XM_005273974.2:c.-290G>A	XP_005274031.1:n.-290G>A
XM_005273976.1:c.722G>A	XP_005274033.1:p.Cys241Tyr
XR_247198.1:n.824G>A
XR_949903.1:n.824G>A
XM_005273976.2:c.722G>A	XP_005274033.1:p.Cys241Tyr
XM_017017669.2:c.-290G>A	XP_016873158.1:n.-290G>A
XM_017017670.2:c.-290G>A	XP_016873159.1:n.-290G>A
XM_017017671.2:c.722G>A	XP_016873160.1:p.Cys241Tyr
XR_949903.3:n.820G>A
NM_002180.3:c.722G>A MANE Select	NP_002171.2:p.Cys241Tyr