Canonical Allele Identifier: CA294560

Gene: PALB2

Linked Data

• ClinVar Variation Id: 143968
• ClinVar RCV Id: RCV000133481 ; RCV000411304 ; RCV000567638 ; RCV000763377
• dbSNP Id: rs587776419
• MyVariant Identifiers: chr16:g.23635329C>A (hg19) ; chr16:g.23624008C>A (hg38)
• PubMed: PMID:25099575

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624008C>A , CM000678.2:g.23624008C>A	GRCh38
NC_000016.9:g.23635329C>A , CM000678.1:g.23635329C>A	GRCh37
NC_000016.8:g.23542830C>A	NCBI36
NG_007406.1:g.22350G>T , LRG_308:g.22350G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2840+1G>T	ENSP00000460666.3:n.2840+1G>T
ENST00000565038.2:c.*315+1G>T	ENSP00000459882.2:n.*315+1G>T
ENST00000566069.6:c.2834+1G>T	ENSP00000459237.2:n.2834+1G>T
ENST00000697377.2:c.2678+1G>T	ENSP00000513286.2:n.2678+1G>T
ENST00000697379.2:c.2840+1G>T	ENSP00000513287.2:n.2840+1G>T
ENST00000561514.2:c.1949+1G>T	ENSP00000460666.2:n.1949+1G>T
ENST00000697374.1:c.1949+1G>T	ENSP00000513284.1:n.1949+1G>T
ENST00000697375.1:n.4181+1G>T
ENST00000697376.1:c.1949+1G>T	ENSP00000513285.1:n.1949+1G>T
ENST00000697377.1:c.1787+1G>T	ENSP00000513286.1:n.1787+1G>T
ENST00000697378.1:n.3354+1G>T
ENST00000697379.1:c.1949+1G>T	ENSP00000513287.1:n.1949+1G>T
ENST00000697380.1:n.2126+1G>T
ENST00000697381.1:n.1529+1G>T
ENST00000697382.1:c.1949+1G>T	ENSP00000513288.1:n.1949+1G>T
ENST00000697383.1:c.368+1G>T	ENSP00000513289.1:n.368+1G>T
ENST00000261584.9:c.2834+1G>T MANE Select	ENSP00000261584.4:n.2834+1G>T
ENST00000261584.8:c.2834+1G>T	ENSP00000261584.4:n.2834+1G>T
ENST00000568219.5:c.1949+1G>T	ENSP00000454703.2:n.1949+1G>T
NM_024675.3:c.2834+1G>T , LRG_308t1:c.2834+1G>T	NP_078951.2:n.2834+1G>T
XM_011545946.1:c.2840+1G>T	XP_011544248.1:n.2840+1G>T
XM_011545947.1:c.2840+1G>T	XP_011544249.1:n.2840+1G>T
XM_011545948.1:c.1949+1G>T	XP_011544250.1:n.1949+1G>T
XR_950851.1:n.3630+1G>T
XM_011545946.2:c.2840+1G>T	XP_011544248.1:n.2840+1G>T
XM_011545947.2:c.2840+1G>T	XP_011544249.1:n.2840+1G>T
XM_011545948.2:c.1949+1G>T	XP_011544250.1:n.1949+1G>T
XM_017023671.1:c.2840+1G>T	XP_016879160.1:n.2840+1G>T
XM_017023672.2:c.2834+1G>T	XP_016879161.1:n.2834+1G>T
XM_017023673.2:c.2834+1G>T	XP_016879162.1:n.2834+1G>T
NM_024675.4:c.2834+1G>T MANE Select	NP_078951.2:n.2834+1G>T