Canonical Allele Identifier: CA151236

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126682
• ClinVar RCV Id: RCV000114559 ; RCV000121760 ; RCV000116090 ; RCV000514905 ; RCV001356378 ; RCV001118197 ; RCV001357367 ; RCV003149785 ; RCV003315620 ; RCV002498482
• dbSNP Id: rs45624036
• ExAC: 16:23635370 C / T
• gnomAD v2: 16-23635370-C-T
• gnomAD v3: 16-23624049-C-T
• gnomAD v4: 16-23624049-C-T
• MyVariant Identifiers: chr16:g.23635370C>T (hg19) ; chr16:g.23624049C>T (hg38)
• PubMed: PMID:17200668 ; PMID:17287723 ; PMID:18302019 ; PMID:20927582 ; PMID:21165770 ; PMID:21356067 ; PMID:21365267 ; PMID:21409391 ; PMID:22241545 ; PMID:24728327 ; PMID:26283626

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624049C>T , CM000678.2:g.23624049C>T	GRCh38
NC_000016.9:g.23635370C>T , CM000678.1:g.23635370C>T	GRCh37
NC_000016.8:g.23542871C>T	NCBI36
NG_007406.1:g.22309G>A , LRG_308:g.22309G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2800G>A	ENSP00000460666.3:p.Val934Met
ENST00000565038.2:c.*275G>A	ENSP00000459882.2:n.*275G>A
ENST00000566069.6:c.2794G>A	ENSP00000459237.2:p.Val932Met
ENST00000697377.2:c.2638G>A	ENSP00000513286.2:p.Val880Met
ENST00000697379.2:c.2800G>A	ENSP00000513287.2:p.Val934Met
ENST00000561514.2:c.1909G>A	ENSP00000460666.2:p.Val637Met
ENST00000697374.1:c.1909G>A	ENSP00000513284.1:p.Val637Met
ENST00000697375.1:n.4141G>A
ENST00000697376.1:c.1909G>A	ENSP00000513285.1:p.Val637Met
ENST00000697377.1:c.1747G>A	ENSP00000513286.1:p.Val583Met
ENST00000697378.1:n.3314G>A
ENST00000697379.1:c.1909G>A	ENSP00000513287.1:p.Val637Met
ENST00000697380.1:n.2086G>A
ENST00000697381.1:n.1489G>A
ENST00000697382.1:c.1909G>A	ENSP00000513288.1:p.Val637Met
ENST00000697383.1:c.328G>A	ENSP00000513289.1:p.Val110Met
ENST00000261584.9:c.2794G>A MANE Select	ENSP00000261584.4:p.Val932Met
ENST00000261584.8:c.2794G>A	ENSP00000261584.4:p.Val932Met
ENST00000568219.5:c.1909G>A	ENSP00000454703.2:p.Val637Met
NM_024675.3:c.2794G>A , LRG_308t1:c.2794G>A	NP_078951.2:p.Val932Met
XM_011545946.1:c.2800G>A	XP_011544248.1:p.Val934Met
XM_011545947.1:c.2800G>A	XP_011544249.1:p.Val934Met
XM_011545948.1:c.1909G>A	XP_011544250.1:p.Val637Met
XR_950851.1:n.3590G>A
XM_011545946.2:c.2800G>A	XP_011544248.1:p.Val934Met
XM_011545947.2:c.2800G>A	XP_011544249.1:p.Val934Met
XM_011545948.2:c.1909G>A	XP_011544250.1:p.Val637Met
XM_017023671.1:c.2800G>A	XP_016879160.1:p.Val934Met
XM_017023672.2:c.2794G>A	XP_016879161.1:p.Val932Met
XM_017023673.2:c.2794G>A	XP_016879162.1:p.Val932Met
NM_024675.4:c.2794G>A MANE Select	NP_078951.2:p.Val932Met