Canonical Allele Identifier: CA269561

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126675
• ClinVar RCV Id: RCV000114552 ; RCV000255170 ; RCV000562748 ; RCV002498481
• dbSNP Id: rs180177122
• gnomAD v4: 16-23626266-C-T
• MyVariant Identifiers: chr16:g.23637587C>T (hg19) ; chr16:g.23626266C>T (hg38)
• PubMed: PMID:21285249 ; PMID:22692731 ; PMID:25099575 ; PMID:28779002

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23626266C>T , CM000678.2:g.23626266C>T	GRCh38
NC_000016.9:g.23637587C>T , CM000678.1:g.23637587C>T	GRCh37
NC_000016.8:g.23545088C>T	NCBI36
NG_007406.1:g.20092G>A , LRG_308:g.20092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2724G>A	ENSP00000460666.3:p.Trp908Ter
ENST00000565038.2:c.*199G>A	ENSP00000459882.2:n.*199G>A
ENST00000566069.6:c.2718G>A	ENSP00000459237.2:p.Trp906Ter
ENST00000697377.2:c.2593-2172G>A	ENSP00000513286.2:n.2593-2172G>A
ENST00000697379.2:c.2724G>A	ENSP00000513287.2:p.Trp908Ter
ENST00000561514.2:c.1833G>A	ENSP00000460666.2:p.Trp611Ter
ENST00000697374.1:c.1833G>A	ENSP00000513284.1:p.Trp611Ter
ENST00000697375.1:n.4065G>A
ENST00000697376.1:c.1833G>A	ENSP00000513285.1:p.Trp611Ter
ENST00000697377.1:c.1702-2172G>A	ENSP00000513286.1:n.1702-2172G>A
ENST00000697378.1:n.3238G>A
ENST00000697379.1:c.1833G>A	ENSP00000513287.1:p.Trp611Ter
ENST00000697380.1:n.2010G>A
ENST00000697381.1:n.1413G>A
ENST00000697382.1:c.1833G>A	ENSP00000513288.1:p.Trp611Ter
ENST00000697383.1:c.252G>A	ENSP00000513289.1:p.Trp84Ter
ENST00000261584.9:c.2718G>A MANE Select	ENSP00000261584.4:p.Trp906Ter
ENST00000261584.8:c.2718G>A	ENSP00000261584.4:p.Trp906Ter
ENST00000565038.1:c.290G>A
ENST00000568219.5:c.1833G>A	ENSP00000454703.2:p.Trp611Ter
NM_024675.3:c.2718G>A , LRG_308t1:c.2718G>A	NP_078951.2:p.Trp906Ter
XM_011545946.1:c.2724G>A	XP_011544248.1:p.Trp908Ter
XM_011545947.1:c.2724G>A	XP_011544249.1:p.Trp908Ter
XM_011545948.1:c.1833G>A	XP_011544250.1:p.Trp611Ter
XR_950851.1:n.3514G>A
XM_011545946.2:c.2724G>A	XP_011544248.1:p.Trp908Ter
XM_011545947.2:c.2724G>A	XP_011544249.1:p.Trp908Ter
XM_011545948.2:c.1833G>A	XP_011544250.1:p.Trp611Ter
XM_017023671.1:c.2724G>A	XP_016879160.1:p.Trp908Ter
XM_017023672.2:c.2718G>A	XP_016879161.1:p.Trp906Ter
XM_017023673.2:c.2718G>A	XP_016879162.1:p.Trp906Ter
NM_024675.4:c.2718G>A MANE Select	NP_078951.2:p.Trp906Ter