Canonical Allele Identifier: CA163622

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126749
• ClinVar RCV Id: RCV000114637 ; RCV000128994 ; RCV000200990 ; RCV000590187 ; RCV001798302 ; RCV002225308
• dbSNP Id: rs139555085
• ExAC: 16:23647467 C / T
• gnomAD v2: 16-23647467-C-T
• gnomAD v3: 16-23636146-C-T
• gnomAD v4: 16-23636146-C-T
• MyVariant Identifiers: chr16:g.23647467C>T (hg19) ; chr16:g.23636146C>T (hg38)
• PubMed: PMID:21932393 ; PMID:23555315 ; PMID:25186627 ; PMID:25980754 ; PMID:26283626 ; PMID:27878467

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636146C>T , CM000678.2:g.23636146C>T	GRCh38
NC_000016.9:g.23647467C>T , CM000678.1:g.23647467C>T	GRCh37
NC_000016.8:g.23554968C>T	NCBI36
NG_007406.1:g.10212G>A , LRG_308:g.10212G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.406G>A	ENSP00000460666.3:p.Asp136Asn
ENST00000565038.2:c.211+1704G>A	ENSP00000459882.2:n.211+1704G>A
ENST00000566069.6:c.400G>A	ENSP00000459237.2:p.Asp134Asn
ENST00000697377.2:c.406G>A	ENSP00000513286.2:p.Asp136Asn
ENST00000697379.2:c.406G>A	ENSP00000513287.2:p.Asp136Asn
ENST00000561514.2:c.-486G>A	ENSP00000460666.2:n.-486G>A
ENST00000697374.1:c.-486G>A	ENSP00000513284.1:n.-486G>A
ENST00000697375.1:n.1747G>A
ENST00000697376.1:c.-486G>A	ENSP00000513285.1:n.-486G>A
ENST00000697377.1:c.-486G>A	ENSP00000513286.1:n.-486G>A
ENST00000697378.1:n.920G>A
ENST00000697379.1:c.-486G>A	ENSP00000513287.1:n.-486G>A
ENST00000697382.1:c.-486G>A	ENSP00000513288.1:n.-486G>A
ENST00000697383.1:c.48+4964G>A	ENSP00000513289.1:n.48+4964G>A
ENST00000697384.1:n.554G>A
ENST00000261584.9:c.400G>A MANE Select	ENSP00000261584.4:p.Asp134Asn
ENST00000261584.8:c.400G>A	ENSP00000261584.4:p.Asp134Asn
ENST00000565038.1:c.86+1704G>A
ENST00000567003.1:n.678G>A
ENST00000568219.5:c.-486G>A	ENSP00000454703.2:n.-486G>A
NM_024675.3:c.400G>A , LRG_308t1:c.400G>A	NP_078951.2:p.Asp134Asn
XM_011545946.1:c.406G>A	XP_011544248.1:p.Asp136Asn
XM_011545947.1:c.406G>A	XP_011544249.1:p.Asp136Asn
XM_011545948.1:c.-486G>A	XP_011544250.1:n.-486G>A
XR_950851.1:n.1196G>A
XM_011545946.2:c.406G>A	XP_011544248.1:p.Asp136Asn
XM_011545947.2:c.406G>A	XP_011544249.1:p.Asp136Asn
XM_011545948.2:c.-486G>A	XP_011544250.1:n.-486G>A
XM_017023671.1:c.406G>A	XP_016879160.1:p.Asp136Asn
XM_017023672.2:c.400G>A	XP_016879161.1:p.Asp134Asn
XM_017023673.2:c.400G>A	XP_016879162.1:p.Asp134Asn
NM_024675.4:c.400G>A MANE Select	NP_078951.2:p.Asp134Asn