Canonical Allele Identifier: CA381644548

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68682460C>T (hg19) ; chr11:g.68914992C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914992C>T , CM000673.2:g.68914992C>T	GRCh38
NC_000011.9:g.68682460C>T , CM000673.1:g.68682460C>T	GRCh37
NC_000011.8:g.68439036C>T	NCBI36
NG_007976.1:g.16142C>T , LRG_250:g.16142C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.881C>T MANE Select	ENSP00000255078.4:p.Ala294Val
ENST00000539224.2:c.1010C>T
ENST00000674955.1:c.881C>T	ENSP00000502463.1:p.Ala294Val
ENST00000675118.1:c.228C>T
ENST00000675119.1:c.170C>T	ENSP00000501861.1:p.Ala57Val
ENST00000675305.1:c.170C>T	ENSP00000502365.1:p.Ala57Val
ENST00000675464.1:c.170C>T	ENSP00000502650.1:p.Ala57Val
ENST00000675615.1:c.881C>T	ENSP00000502413.1:p.Ala294Val
ENST00000675683.1:c.268C>T
ENST00000676173.1:n.925C>T
ENST00000676228.1:c.*204C>T	ENSP00000502375.1:n.*204C>T
ENST00000676239.1:n.195C>T
ENST00000255078.7:c.881C>T	ENSP00000255078.3:p.Ala294Val
NM_002180.2:c.881C>T , LRG_250t1:c.881C>T	NP_002171.2:p.Ala294Val
XM_005273974.2:c.-131C>T	XP_005274031.1:n.-131C>T
XM_005273976.1:c.881C>T	XP_005274033.1:p.Ala294Val
XR_247198.1:n.983C>T
XR_949903.1:n.983C>T
XM_005273976.2:c.881C>T	XP_005274033.1:p.Ala294Val
XM_017017669.2:c.-131C>T	XP_016873158.1:n.-131C>T
XM_017017670.2:c.-131C>T	XP_016873159.1:n.-131C>T
XM_017017671.2:c.881C>T	XP_016873160.1:p.Ala294Val
XR_949903.3:n.979C>T
NM_002180.3:c.881C>T MANE Select	NP_002171.2:p.Ala294Val