Canonical Allele Identifier: CA167879

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126672
• ClinVar RCV Id: RCV000114549 ; RCV000131257 ; RCV000587708 ; RCV000483553 ; RCV001118198 ; RCV003483473
• dbSNP Id: rs45476495
• ExAC: 16:23637631 C / T
• gnomAD v2: 16-23637631-C-T
• gnomAD v3: 16-23626310-C-T
• gnomAD v4: 16-23626310-C-T
• MyVariant Identifiers: chr16:g.23637631C>T (hg19) ; chr16:g.23626310C>T (hg38)
• PubMed: PMID:17200668 ; PMID:22241545 ; PMID:25186627 ; PMID:25356972 ; PMID:25575445 ; PMID:25980754 ; PMID:26283626 ; PMID:26315354 ; PMID:26534844

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23626310C>T , CM000678.2:g.23626310C>T	GRCh38
NC_000016.9:g.23637631C>T , CM000678.1:g.23637631C>T	GRCh37
NC_000016.8:g.23545132C>T	NCBI36
NG_007406.1:g.20048G>A , LRG_308:g.20048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2680G>A	ENSP00000460666.3:p.Glu894Lys
ENST00000565038.2:c.*155G>A	ENSP00000459882.2:n.*155G>A
ENST00000566069.6:c.2674G>A	ENSP00000459237.2:p.Glu892Lys
ENST00000697377.2:c.2593-2216G>A	ENSP00000513286.2:n.2593-2216G>A
ENST00000697379.2:c.2680G>A	ENSP00000513287.2:p.Glu894Lys
ENST00000561514.2:c.1789G>A	ENSP00000460666.2:p.Glu597Lys
ENST00000697374.1:c.1789G>A	ENSP00000513284.1:p.Glu597Lys
ENST00000697375.1:n.4021G>A
ENST00000697376.1:c.1789G>A	ENSP00000513285.1:p.Glu597Lys
ENST00000697377.1:c.1702-2216G>A	ENSP00000513286.1:n.1702-2216G>A
ENST00000697378.1:n.3194G>A
ENST00000697379.1:c.1789G>A	ENSP00000513287.1:p.Glu597Lys
ENST00000697380.1:n.1966G>A
ENST00000697381.1:n.1369G>A
ENST00000697382.1:c.1789G>A	ENSP00000513288.1:p.Glu597Lys
ENST00000697383.1:c.208G>A	ENSP00000513289.1:p.Glu70Lys
ENST00000261584.9:c.2674G>A MANE Select	ENSP00000261584.4:p.Glu892Lys
ENST00000261584.8:c.2674G>A	ENSP00000261584.4:p.Glu892Lys
ENST00000565038.1:c.246G>A
ENST00000568219.5:c.1789G>A	ENSP00000454703.2:p.Glu597Lys
NM_024675.3:c.2674G>A , LRG_308t1:c.2674G>A	NP_078951.2:p.Glu892Lys
XM_011545946.1:c.2680G>A	XP_011544248.1:p.Glu894Lys
XM_011545947.1:c.2680G>A	XP_011544249.1:p.Glu894Lys
XM_011545948.1:c.1789G>A	XP_011544250.1:p.Glu597Lys
XR_950851.1:n.3470G>A
XM_011545946.2:c.2680G>A	XP_011544248.1:p.Glu894Lys
XM_011545947.2:c.2680G>A	XP_011544249.1:p.Glu894Lys
XM_011545948.2:c.1789G>A	XP_011544250.1:p.Glu597Lys
XM_017023671.1:c.2680G>A	XP_016879160.1:p.Glu894Lys
XM_017023672.2:c.2674G>A	XP_016879161.1:p.Glu892Lys
XM_017023673.2:c.2674G>A	XP_016879162.1:p.Glu892Lys
NM_024675.4:c.2674G>A MANE Select	NP_078951.2:p.Glu892Lys