Canonical Allele Identifier: CA269654

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126774
• ClinVar RCV Id: RCV000114666 ; RCV000220533
• dbSNP Id: rs515726129
• gnomAD v4: 16-23638095-T-C
• MyVariant Identifiers: chr16:g.23649416T>C (hg19) ; chr16:g.23638095T>C (hg38)
• PubMed: PMID:20927582 ; PMID:22692731

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23638095T>C , CM000678.2:g.23638095T>C	GRCh38
NC_000016.9:g.23649416T>C , CM000678.1:g.23649416T>C	GRCh37
NC_000016.8:g.23556917T>C	NCBI36
NG_007406.1:g.8263A>G , LRG_308:g.8263A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.89A>G	ENSP00000460666.3:p.Tyr30Cys
ENST00000565038.2:c.83A>G	ENSP00000459882.2:p.Tyr28Cys
ENST00000566069.6:c.83A>G	ENSP00000459237.2:p.Tyr28Cys
ENST00000697377.2:c.89A>G	ENSP00000513286.2:p.Tyr30Cys
ENST00000697379.2:c.89A>G	ENSP00000513287.2:p.Tyr30Cys
ENST00000561514.2:c.-803A>G	ENSP00000460666.2:n.-803A>G
ENST00000697374.1:c.-803A>G	ENSP00000513284.1:n.-803A>G
ENST00000697375.1:n.1430A>G
ENST00000697376.1:c.-839A>G	ENSP00000513285.1:n.-839A>G
ENST00000697377.1:c.-803A>G	ENSP00000513286.1:n.-803A>G
ENST00000697378.1:n.603A>G
ENST00000697379.1:c.-803A>G	ENSP00000513287.1:n.-803A>G
ENST00000697382.1:c.-803A>G	ENSP00000513288.1:n.-803A>G
ENST00000697383.1:c.48+3015A>G	ENSP00000513289.1:n.48+3015A>G
ENST00000697384.1:n.237A>G
ENST00000261584.9:c.83A>G MANE Select	ENSP00000261584.4:p.Tyr28Cys
ENST00000261584.8:c.83A>G	ENSP00000261584.4:p.Tyr28Cys
ENST00000561514.1:c.89A>G	ENSP00000460666.1:p.Tyr30Cys
ENST00000567003.1:n.361A>G
ENST00000568219.5:c.-803A>G	ENSP00000454703.2:n.-803A>G
NM_024675.3:c.83A>G , LRG_308t1:c.83A>G	NP_078951.2:p.Tyr28Cys
XM_011545946.1:c.89A>G	XP_011544248.1:p.Tyr30Cys
XM_011545947.1:c.89A>G	XP_011544249.1:p.Tyr30Cys
XM_011545948.1:c.-803A>G	XP_011544250.1:n.-803A>G
XR_950851.1:n.879A>G
XM_011545946.2:c.89A>G	XP_011544248.1:p.Tyr30Cys
XM_011545947.2:c.89A>G	XP_011544249.1:p.Tyr30Cys
XM_011545948.2:c.-803A>G	XP_011544250.1:n.-803A>G
XM_017023671.1:c.89A>G	XP_016879160.1:p.Tyr30Cys
XM_017023672.2:c.83A>G	XP_016879161.1:p.Tyr28Cys
XM_017023673.2:c.83A>G	XP_016879162.1:p.Tyr28Cys
NM_024675.4:c.83A>G MANE Select	NP_078951.2:p.Tyr28Cys