Canonical Allele Identifier: CA288386

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126590
• ClinVar RCV Id: RCV000116061 ; RCV000114460 ; RCV000212768 ; RCV002483177 ; RCV000780571
• dbSNP Id: rs202194596
• ExAC: 16:23649272 C / T
• gnomAD v2: 16-23649272-C-T
• gnomAD v3: 16-23637951-C-T
• gnomAD v4: 16-23637951-C-T
• COSMIC: COSM3279882
• MyVariant Identifiers: chr16:g.23649272C>T (hg19) ; chr16:g.23637951C>T (hg38)
• PubMed: PMID:22241545 ; PMID:23935836 ; PMID:27978560

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23637951C>T , CM000678.2:g.23637951C>T	GRCh38
NC_000016.9:g.23649272C>T , CM000678.1:g.23649272C>T	GRCh37
NC_000016.8:g.23556773C>T	NCBI36
NG_007406.1:g.8407G>A , LRG_308:g.8407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.116G>A	ENSP00000460666.3:p.Arg39His
ENST00000565038.2:c.110G>A	ENSP00000459882.2:p.Arg37His
ENST00000566069.6:c.110G>A	ENSP00000459237.2:p.Arg37His
ENST00000697377.2:c.116G>A	ENSP00000513286.2:p.Arg39His
ENST00000697379.2:c.116G>A	ENSP00000513287.2:p.Arg39His
ENST00000561514.2:c.-776G>A	ENSP00000460666.2:n.-776G>A
ENST00000697374.1:c.-776G>A	ENSP00000513284.1:n.-776G>A
ENST00000697375.1:n.1457G>A
ENST00000697376.1:c.-776G>A	ENSP00000513285.1:n.-776G>A
ENST00000697377.1:c.-776G>A	ENSP00000513286.1:n.-776G>A
ENST00000697378.1:n.630G>A
ENST00000697379.1:c.-776G>A	ENSP00000513287.1:n.-776G>A
ENST00000697382.1:c.-776G>A	ENSP00000513288.1:n.-776G>A
ENST00000697383.1:c.48+3159G>A	ENSP00000513289.1:n.48+3159G>A
ENST00000697384.1:n.264G>A
ENST00000261584.9:c.110G>A MANE Select	ENSP00000261584.4:p.Arg37His
ENST00000261584.8:c.110G>A	ENSP00000261584.4:p.Arg37His
ENST00000561514.1:c.116G>A	ENSP00000460666.1:p.Arg39His
ENST00000567003.1:n.388G>A
ENST00000568219.5:c.-776G>A	ENSP00000454703.2:n.-776G>A
NM_024675.3:c.110G>A , LRG_308t1:c.110G>A	NP_078951.2:p.Arg37His
XM_011545946.1:c.116G>A	XP_011544248.1:p.Arg39His
XM_011545947.1:c.116G>A	XP_011544249.1:p.Arg39His
XM_011545948.1:c.-776G>A	XP_011544250.1:n.-776G>A
XR_950851.1:n.906G>A
XM_011545946.2:c.116G>A	XP_011544248.1:p.Arg39His
XM_011545947.2:c.116G>A	XP_011544249.1:p.Arg39His
XM_011545948.2:c.-776G>A	XP_011544250.1:n.-776G>A
XM_017023671.1:c.116G>A	XP_016879160.1:p.Arg39His
XM_017023672.2:c.110G>A	XP_016879161.1:p.Arg37His
XM_017023673.2:c.110G>A	XP_016879162.1:p.Arg37His
NM_024675.4:c.110G>A MANE Select	NP_078951.2:p.Arg37His