Canonical Allele Identifier: CA475186139

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1858276790
• gnomAD v3: 11-68908170-T-G
• gnomAD v4: 11-68908170-T-G
• MyVariant Identifiers: chr11:g.68675638T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908170T>G , CM000673.2:g.68908170T>G	GRCh38
NC_000011.9:g.68675638T>G , CM000673.1:g.68675638T>G	GRCh37
NC_000011.8:g.68432214T>G	NCBI36
NG_007976.1:g.9320T>G , LRG_250:g.9320T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.282T>G MANE Select	ENSP00000255078.4:p.Ala94=
ENST00000539224.2:c.245T>G
ENST00000674583.1:c.245T>G
ENST00000674597.1:c.93T>G
ENST00000674955.1:c.282T>G	ENSP00000502463.1:p.Ala94=
ENST00000675142.1:n.245T>G
ENST00000675469.1:c.158T>G
ENST00000675615.1:c.282T>G	ENSP00000502413.1:p.Ala94=
ENST00000675674.1:n.245T>G
ENST00000675873.1:c.245T>G
ENST00000676173.1:n.326T>G
ENST00000676228.1:c.282T>G	ENSP00000502375.1:p.Ala94=
ENST00000255078.7:c.282T>G	ENSP00000255078.3:p.Ala94=
ENST00000539224.1:c.282T>G	ENSP00000440465.1:p.Ala94=
ENST00000544541.1:c.*22T>G	ENSP00000443343.1:n.*22T>G
ENST00000545146.1:c.*152T>G	ENSP00000456366.1:n.*152T>G
NM_002180.2:c.282T>G , LRG_250t1:c.282T>G	NP_002171.2:p.Ala94=
XM_005273974.2:c.-730T>G	XP_005274031.1:n.-730T>G
XM_005273976.1:c.282T>G	XP_005274033.1:p.Ala94=
XR_247198.1:n.384T>G
XR_949903.1:n.384T>G
XM_005273976.2:c.282T>G	XP_005274033.1:p.Ala94=
XM_017017669.2:c.-632T>G	XP_016873158.1:n.-632T>G
XM_017017671.2:c.282T>G	XP_016873160.1:p.Ala94=
XR_949903.3:n.380T>G
NM_002180.3:c.282T>G MANE Select	NP_002171.2:p.Ala94=