Canonical Allele Identifier: CA294568

Gene: PALB2

Linked Data

• ClinVar Variation Id: 143978
• ClinVar RCV Id: RCV000133492 ; RCV000566830 ; RCV001030105
• dbSNP Id: rs587776405
• MyVariant Identifiers: chr16:g.23652431C>T (hg19) ; chr16:g.23641110C>T (hg38)
• PubMed: PMID:24556926 ; PMID:25099575

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641110C>T , CM000678.2:g.23641110C>T	GRCh38
NC_000016.9:g.23652431C>T , CM000678.1:g.23652431C>T	GRCh37
NC_000016.8:g.23559932C>T	NCBI36
NG_007406.1:g.5248G>A , LRG_308:g.5248G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-805G>A	ENSP00000460666.3:n.-805G>A
ENST00000565038.2:c.48G>A	ENSP00000459882.2:p.Lys16=
ENST00000566069.6:c.48G>A	ENSP00000459237.2:p.Lys16=
ENST00000697377.2:c.-192G>A	ENSP00000513286.2:n.-192G>A
ENST00000697379.2:c.-98G>A	ENSP00000513287.2:n.-98G>A
ENST00000561514.2:c.-1696G>A	ENSP00000460666.2:n.-1696G>A
ENST00000697374.1:c.-1287G>A	ENSP00000513284.1:n.-1287G>A
ENST00000697376.1:c.-1008G>A	ENSP00000513285.1:n.-1008G>A
ENST00000697377.1:c.-1083G>A	ENSP00000513286.1:n.-1083G>A
ENST00000697379.1:c.-989G>A	ENSP00000513287.1:n.-989G>A
ENST00000697382.1:c.-1747G>A	ENSP00000513288.1:n.-1747G>A
ENST00000697383.1:c.48G>A	ENSP00000513289.1:p.Lys16=
ENST00000697384.1:n.202G>A
ENST00000261584.9:c.48G>A MANE Select	ENSP00000261584.4:p.Lys16=
ENST00000261584.8:c.48G>A	ENSP00000261584.4:p.Lys16=
ENST00000567003.1:n.192G>A
ENST00000568219.5:c.-838+17G>A	ENSP00000454703.2:n.-838+17G>A
NM_024675.3:c.48G>A , LRG_308t1:c.48G>A	NP_078951.2:p.Lys16=
XM_011545948.1:c.-972G>A	XP_011544250.1:n.-972G>A
XM_011545946.2:c.-805G>A	XP_011544248.1:n.-805G>A
XM_011545947.2:c.-805G>A	XP_011544249.1:n.-805G>A
XM_011545948.2:c.-972G>A	XP_011544250.1:n.-972G>A
XM_017023671.1:c.-805G>A	XP_016879160.1:n.-805G>A
XM_017023672.2:c.48G>A	XP_016879161.1:p.Lys16=
XM_017023673.2:c.48G>A	XP_016879162.1:p.Lys16=
NM_024675.4:c.48G>A MANE Select	NP_078951.2:p.Lys16=