Canonical Allele Identifier: CA151239

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126683
• ClinVar RCV Id: RCV000114561 ; RCV000116092 ; RCV000306515 ; RCV000417395 ; RCV000586156 ; RCV001356702 ; RCV001170349 ; RCV004528790
• dbSNP Id: rs45478192
• ExAC: 16:23635348 A / C
• gnomAD v2: 16-23635348-A-C
• gnomAD v3: 16-23624027-A-C
• gnomAD v4: 16-23624027-A-C
• MyVariant Identifiers: chr16:g.23635348A>C (hg19) ; chr16:g.23624027A>C (hg38)
• PubMed: PMID:17200668 ; PMID:18302019 ; PMID:19635604 ; PMID:20582465 ; PMID:20722467 ; PMID:21165770 ; PMID:21365267 ; PMID:21618343 ; PMID:22241545 ; PMID:23824750 ; PMID:23935836 ; PMID:24141787 ; PMID:24448499 ; PMID:24556926 ; PMID:24949998 ; PMID:25186627 ; PMID:25356972 ; PMID:25479140 ; PMID:25575445 ; PMID:26094658 ; PMID:26283626 ; PMID:26315354 ; PMID:26534844 ; PMID:26564480 ; PMID:26740942 ; PMID:27099641 ; PMID:27153395 ; PMID:27328445 ; PMID:27397723 ; PMID:27573125 ; PMID:27829436

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624027A>C , CM000678.2:g.23624027A>C	GRCh38
NC_000016.9:g.23635348A>C , CM000678.1:g.23635348A>C	GRCh37
NC_000016.8:g.23542849A>C	NCBI36
NG_007406.1:g.22331T>G , LRG_308:g.22331T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2822T>G	ENSP00000460666.3:p.Leu941Trp
ENST00000565038.2:c.*297T>G	ENSP00000459882.2:n.*297T>G
ENST00000566069.6:c.2816T>G	ENSP00000459237.2:p.Leu939Trp
ENST00000697377.2:c.2660T>G	ENSP00000513286.2:p.Leu887Trp
ENST00000697379.2:c.2822T>G	ENSP00000513287.2:p.Leu941Trp
ENST00000561514.2:c.1931T>G	ENSP00000460666.2:p.Leu644Trp
ENST00000697374.1:c.1931T>G	ENSP00000513284.1:p.Leu644Trp
ENST00000697375.1:n.4163T>G
ENST00000697376.1:c.1931T>G	ENSP00000513285.1:p.Leu644Trp
ENST00000697377.1:c.1769T>G	ENSP00000513286.1:p.Leu590Trp
ENST00000697378.1:n.3336T>G
ENST00000697379.1:c.1931T>G	ENSP00000513287.1:p.Leu644Trp
ENST00000697380.1:n.2108T>G
ENST00000697381.1:n.1511T>G
ENST00000697382.1:c.1931T>G	ENSP00000513288.1:p.Leu644Trp
ENST00000697383.1:c.350T>G	ENSP00000513289.1:p.Leu117Trp
ENST00000261584.9:c.2816T>G MANE Select	ENSP00000261584.4:p.Leu939Trp
ENST00000261584.8:c.2816T>G	ENSP00000261584.4:p.Leu939Trp
ENST00000568219.5:c.1931T>G	ENSP00000454703.2:p.Leu644Trp
NM_024675.3:c.2816T>G , LRG_308t1:c.2816T>G	NP_078951.2:p.Leu939Trp
XM_011545946.1:c.2822T>G	XP_011544248.1:p.Leu941Trp
XM_011545947.1:c.2822T>G	XP_011544249.1:p.Leu941Trp
XM_011545948.1:c.1931T>G	XP_011544250.1:p.Leu644Trp
XR_950851.1:n.3612T>G
XM_011545946.2:c.2822T>G	XP_011544248.1:p.Leu941Trp
XM_011545947.2:c.2822T>G	XP_011544249.1:p.Leu941Trp
XM_011545948.2:c.1931T>G	XP_011544250.1:p.Leu644Trp
XM_017023671.1:c.2822T>G	XP_016879160.1:p.Leu941Trp
XM_017023672.2:c.2816T>G	XP_016879161.1:p.Leu939Trp
XM_017023673.2:c.2816T>G	XP_016879162.1:p.Leu939Trp
NM_024675.4:c.2816T>G MANE Select	NP_078951.2:p.Leu939Trp