Canonical Allele Identifier: CA292653

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126745
• ClinVar RCV Id: RCV000127303 ; RCV000212828 ; RCV000384114 ; RCV000586081 ; RCV001082966
• dbSNP Id: rs45439097
• ExAC: 16:23614846 C / T
• gnomAD v2: 16-23614846-C-T
• gnomAD v3: 16-23603525-C-T
• gnomAD v4: 16-23603525-C-T
• MyVariant Identifiers: chr16:g.23614846C>T (hg19) ; chr16:g.23603525C>T (hg38)
• PubMed: PMID:19763884 ; PMID:20927582 ; PMID:21165770 ; PMID:21618343 ; PMID:24206657 ; PMID:25356972 ; PMID:26283626

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603525C>T , CM000678.2:g.23603525C>T	GRCh38
NC_000016.9:g.23614846C>T , CM000678.1:g.23614846C>T	GRCh37
NC_000016.8:g.23522347C>T	NCBI36
NG_007406.1:g.42833G>A , LRG_308:g.42833G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3501G>A	ENSP00000460666.3:p.Ser1167=
ENST00000565038.2:c.*980G>A	ENSP00000459882.2:n.*980G>A
ENST00000566069.6:c.*130G>A	ENSP00000459237.2:n.*130G>A
ENST00000697377.2:c.3339G>A	ENSP00000513286.2:p.Ser1113=
ENST00000697379.2:c.3501G>A	ENSP00000513287.2:p.Ser1167=
ENST00000561514.2:c.2610G>A	ENSP00000460666.2:p.Ser870=
ENST00000697374.1:c.2610G>A	ENSP00000513284.1:p.Ser870=
ENST00000697375.1:n.4842G>A
ENST00000697376.1:c.*130G>A	ENSP00000513285.1:n.*130G>A
ENST00000697377.1:c.2448G>A	ENSP00000513286.1:p.Ser816=
ENST00000697378.1:n.4015G>A
ENST00000697379.1:c.2610G>A	ENSP00000513287.1:p.Ser870=
ENST00000697380.1:n.2699G>A
ENST00000697381.1:n.2190G>A
ENST00000697382.1:c.*272G>A	ENSP00000513288.1:n.*272G>A
ENST00000697383.1:c.1029G>A	ENSP00000513289.1:p.Ser343=
ENST00000261584.9:c.3495G>A MANE Select	ENSP00000261584.4:p.Ser1165=
ENST00000261584.8:c.3495G>A	ENSP00000261584.4:p.Ser1165=
ENST00000566069.5:c.261G>A
ENST00000568219.5:c.2610G>A	ENSP00000454703.2:p.Ser870=
NM_024675.3:c.3495G>A , LRG_308t1:c.3495G>A	NP_078951.2:p.Ser1165=
XM_011545946.1:c.3501G>A	XP_011544248.1:p.Ser1167=
XM_011545947.1:c.*130G>A	XP_011544249.1:n.*130G>A
XM_011545948.1:c.2610G>A	XP_011544250.1:p.Ser870=
XR_950851.1:n.4203G>A
XM_011545946.2:c.3501G>A	XP_011544248.1:p.Ser1167=
XM_011545947.2:c.*130G>A	XP_011544249.1:n.*130G>A
XM_011545948.2:c.2610G>A	XP_011544250.1:p.Ser870=
XM_017023671.1:c.3264G>A	XP_016879160.1:p.Ser1088=
XM_017023672.2:c.3258G>A	XP_016879161.1:p.Ser1086=
XM_017023673.2:c.*130G>A	XP_016879162.1:n.*130G>A
NM_024675.4:c.3495G>A MANE Select	NP_078951.2:p.Ser1165=