Canonical Allele Identifier: CA381644267

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68682316T>A (hg19) ; chr11:g.68914848T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914848T>A , CM000673.2:g.68914848T>A	GRCh38
NC_000011.9:g.68682316T>A , CM000673.1:g.68682316T>A	GRCh37
NC_000011.8:g.68438892T>A	NCBI36
NG_007976.1:g.15998T>A , LRG_250:g.15998T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.737T>A MANE Select	ENSP00000255078.4:p.Ile246Asn
ENST00000539224.2:c.866T>A
ENST00000674955.1:c.737T>A	ENSP00000502463.1:p.Ile246Asn
ENST00000675118.1:c.84T>A
ENST00000675119.1:c.26T>A	ENSP00000501861.1:p.Ile9Asn
ENST00000675305.1:c.26T>A	ENSP00000502365.1:p.Ile9Asn
ENST00000675464.1:c.26T>A	ENSP00000502650.1:p.Ile9Asn
ENST00000675615.1:c.737T>A	ENSP00000502413.1:p.Ile246Asn
ENST00000675683.1:c.124T>A
ENST00000676173.1:n.781T>A
ENST00000676228.1:c.*60T>A	ENSP00000502375.1:n.*60T>A
ENST00000676239.1:n.51T>A
ENST00000255078.7:c.737T>A	ENSP00000255078.3:p.Ile246Asn
ENST00000539224.1:c.*60T>A	ENSP00000440465.1:n.*60T>A
NM_002180.2:c.737T>A , LRG_250t1:c.737T>A	NP_002171.2:p.Ile246Asn
XM_005273974.2:c.-275T>A	XP_005274031.1:n.-275T>A
XM_005273976.1:c.737T>A	XP_005274033.1:p.Ile246Asn
XR_247198.1:n.839T>A
XR_949903.1:n.839T>A
XM_005273976.2:c.737T>A	XP_005274033.1:p.Ile246Asn
XM_017017669.2:c.-275T>A	XP_016873158.1:n.-275T>A
XM_017017670.2:c.-275T>A	XP_016873159.1:n.-275T>A
XM_017017671.2:c.737T>A	XP_016873160.1:p.Ile246Asn
XR_949903.3:n.835T>A
NM_002180.3:c.737T>A MANE Select	NP_002171.2:p.Ile246Asn