Canonical Allele Identifier: CA161352

Gene: PALB2

Linked Data

• ClinVar Variation Id: 128135
• ClinVar RCV Id: RCV000121761 ; RCV000656938 ; RCV000635686 ; RCV001804846
• dbSNP Id: rs587778588
• gnomAD v2: 16-23634440-C-T
• gnomAD v3: 16-23623119-C-T
• gnomAD v4: 16-23623119-C-T
• MyVariant Identifiers: chr16:g.23634440C>T (hg19) ; chr16:g.23623119C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623119C>T , CM000678.2:g.23623119C>T	GRCh38
NC_000016.9:g.23634440C>T , CM000678.1:g.23634440C>T	GRCh37
NC_000016.8:g.23541941C>T	NCBI36
NG_007406.1:g.23239G>A , LRG_308:g.23239G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2852G>A	ENSP00000460666.3:p.Cys951Tyr
ENST00000565038.2:c.*327G>A	ENSP00000459882.2:n.*327G>A
ENST00000566069.6:c.2846G>A	ENSP00000459237.2:p.Cys949Tyr
ENST00000697377.2:c.2690G>A	ENSP00000513286.2:p.Cys897Tyr
ENST00000697379.2:c.2852G>A	ENSP00000513287.2:p.Cys951Tyr
ENST00000561514.2:c.1961G>A	ENSP00000460666.2:p.Cys654Tyr
ENST00000697374.1:c.1961G>A	ENSP00000513284.1:p.Cys654Tyr
ENST00000697375.1:n.4193G>A
ENST00000697376.1:c.1961G>A	ENSP00000513285.1:p.Cys654Tyr
ENST00000697377.1:c.1799G>A	ENSP00000513286.1:p.Cys600Tyr
ENST00000697378.1:n.3366G>A
ENST00000697379.1:c.1961G>A	ENSP00000513287.1:p.Cys654Tyr
ENST00000697380.1:n.2138G>A
ENST00000697381.1:n.1541G>A
ENST00000697382.1:c.1961G>A	ENSP00000513288.1:p.Cys654Tyr
ENST00000697383.1:c.380G>A	ENSP00000513289.1:p.Cys127Tyr
ENST00000261584.9:c.2846G>A MANE Select	ENSP00000261584.4:p.Cys949Tyr
ENST00000261584.8:c.2846G>A	ENSP00000261584.4:p.Cys949Tyr
ENST00000568219.5:c.1961G>A	ENSP00000454703.2:p.Cys654Tyr
NM_024675.3:c.2846G>A , LRG_308t1:c.2846G>A	NP_078951.2:p.Cys949Tyr
XM_011545946.1:c.2852G>A	XP_011544248.1:p.Cys951Tyr
XM_011545947.1:c.2852G>A	XP_011544249.1:p.Cys951Tyr
XM_011545948.1:c.1961G>A	XP_011544250.1:p.Cys654Tyr
XR_950851.1:n.3642G>A
XM_011545946.2:c.2852G>A	XP_011544248.1:p.Cys951Tyr
XM_011545947.2:c.2852G>A	XP_011544249.1:p.Cys951Tyr
XM_011545948.2:c.1961G>A	XP_011544250.1:p.Cys654Tyr
XM_017023671.1:c.2852G>A	XP_016879160.1:p.Cys951Tyr
XM_017023672.2:c.2846G>A	XP_016879161.1:p.Cys949Tyr
XM_017023673.2:c.2846G>A	XP_016879162.1:p.Cys949Tyr
NM_024675.4:c.2846G>A MANE Select	NP_078951.2:p.Cys949Tyr