Canonical Allele Identifier: CA210109

Gene: ITGB6

Linked Data

• ClinVar Variation Id: 217305
• ClinVar RCV Id: RCV000201256
• dbSNP Id: rs779692470
• ExAC: 2:161029103 C / T
• gnomAD v2: 2-161029103-C-T
• gnomAD v4: 2-160172592-C-T
• COSMIC: COSM4769505
• MyVariant Identifiers: chr2:g.161029103C>T (hg19) ; chr2:g.160172592C>T (hg38)
• PubMed: PMID:24824130 ; PMID:26695873

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.160172592C>T , CM000664.2:g.160172592C>T	GRCh38
NC_000002.11:g.161029103C>T , CM000664.1:g.161029103C>T	GRCh37
NC_000002.10:g.160737349C>T	NCBI36
NG_042041.1:g.32722G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283249.7:c.898G>A MANE Select	ENSP00000283249.2:p.Glu300Lys
ENST00000652612.1:n.341G>A
ENST00000283249.6:c.898G>A	ENSP00000283249.2:p.Glu300Lys
ENST00000409583.5:c.*512G>A	ENSP00000386477.1:n.*512G>A
ENST00000409872.1:c.898G>A	ENSP00000386367.1:p.Glu300Lys
ENST00000409967.6:c.898G>A	ENSP00000386828.2:p.Glu300Lys
ENST00000428609.6:c.772G>A	ENSP00000408024.2:p.Glu258Lys
ENST00000485635.1:n.1350G>A
ENST00000620391.4:c.613G>A	ENSP00000481183.1:p.Glu205Lys
NM_000888.4:c.898G>A	NP_000879.2:p.Glu300Lys
NM_001282353.1:c.898G>A	NP_001269282.1:p.Glu300Lys
NM_001282354.1:c.613G>A	NP_001269283.1:p.Glu205Lys
NM_001282355.1:c.898G>A	NP_001269284.1:p.Glu300Lys
NM_001282388.1:c.772G>A	NP_001269317.1:p.Glu258Lys
NM_001282389.1:c.679G>A	NP_001269318.1:p.Glu227Lys
NM_001282390.1:c.484G>A	NP_001269319.1:p.Glu162Lys
NM_000888.5:c.898G>A MANE Select	NP_000879.2:p.Glu300Lys
NM_001282353.2:c.898G>A	NP_001269282.1:p.Glu300Lys
NM_001282355.2:c.898G>A	NP_001269284.1:p.Glu300Lys
NM_001282388.2:c.772G>A	NP_001269317.1:p.Glu258Lys
NM_001282389.2:c.679G>A	NP_001269318.1:p.Glu227Lys
NM_001282390.2:c.484G>A	NP_001269319.1:p.Glu162Lys
NM_001282354.2:c.613G>A	NP_001269283.1:p.Glu205Lys