Canonical Allele Identifier: CA341255

Gene: EPB42

Linked Data

• ClinVar Variation Id: 13235
• ClinVar RCV Id: RCV000014140
• dbSNP Id: rs121917734
• gnomAD v2: 15-43500967-C-T
• gnomAD v4: 15-43208769-C-T
• COSMIC: COSM4054777
• MyVariant Identifiers: chr15:g.43500967C>T (hg19) ; chr15:g.43208769C>T (hg38)
• PubMed: PMID:2386772 ; PMID:7772513 ; PMID:24624460

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43208769C>T , CM000677.2:g.43208769C>T	GRCh38
NC_000015.9:g.43500967C>T , CM000677.1:g.43500967C>T	GRCh37
NC_000015.8:g.41288259C>T	NCBI36
NG_011505.1:g.17357G>A
NG_011505.2:g.22088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441366.7:c.839G>A MANE Select	ENSP00000396616.2:p.Arg280Gln
ENST00000567019.2:n.345G>A
ENST00000648595.1:c.929G>A	ENSP00000497777.1:p.Arg310Gln
ENST00000300215.7:c.929G>A	ENSP00000300215.3:p.Arg310Gln
ENST00000441366.6:c.839G>A	ENSP00000396616.2:p.Arg280Gln
ENST00000540029.5:c.605G>A	ENSP00000444699.1:p.Arg202Gln
ENST00000567019.1:n.354G>A
ENST00000568508.5:c.698G>A	ENSP00000457140.1:p.Arg233Gln
ENST00000569204.1:c.398G>A	ENSP00000455489.1:p.Arg133Gln
ENST00000622454.4:c.839G>A	ENSP00000481226.1:p.Arg280Gln
NM_000119.2:c.929G>A	NP_000110.2:p.Arg310Gln
NM_001114134.1:c.839G>A	NP_001107606.1:p.Arg280Gln
XM_005254225.1:c.734G>A	XP_005254282.1:p.Arg245Gln
XM_011521349.1:c.929G>A	XP_011519651.1:p.Arg310Gln
XM_011521350.1:c.929G>A	XP_011519652.1:p.Arg310Gln
XM_011521351.1:c.929G>A	XP_011519653.1:p.Arg310Gln
XM_011521352.1:c.893G>A	XP_011519654.1:p.Arg298Gln
XM_011521353.1:c.824G>A	XP_011519655.1:p.Arg275Gln
XM_011521354.1:c.374G>A	XP_011519656.1:p.Arg125Gln
NM_000119.3:c.929G>A	NP_000110.2:p.Arg310Gln
XM_011521349.2:c.929G>A	XP_011519651.1:p.Arg310Gln
XM_011521350.2:c.929G>A	XP_011519652.1:p.Arg310Gln
XM_011521351.2:c.929G>A	XP_011519653.1:p.Arg310Gln
XM_011521352.2:c.893G>A	XP_011519654.1:p.Arg298Gln
XM_011521353.2:c.824G>A	XP_011519655.1:p.Arg275Gln
XM_011521354.2:c.374G>A	XP_011519656.1:p.Arg125Gln
NM_001114134.2:c.839G>A MANE Select	NP_001107606.1:p.Arg280Gln