Canonical Allele Identifier: CA299781

Gene: PALB2

Linked Data

• ClinVar Variation Id: 182785
• ClinVar RCV Id: RCV000160865 ; RCV000216462 ; RCV000228567 ; RCV004535049
• dbSNP Id: rs730881904
• gnomAD v2: 16-23647280-C-T
• gnomAD v4: 16-23635959-C-T
• MyVariant Identifiers: chr16:g.23647280C>T (hg19) ; chr16:g.23635959C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635959C>T , CM000678.2:g.23635959C>T	GRCh38
NC_000016.9:g.23647280C>T , CM000678.1:g.23647280C>T	GRCh37
NC_000016.8:g.23554781C>T	NCBI36
NG_007406.1:g.10399G>A , LRG_308:g.10399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.593G>A	ENSP00000460666.3:p.Arg198Lys
ENST00000565038.2:c.211+1891G>A	ENSP00000459882.2:n.211+1891G>A
ENST00000566069.6:c.587G>A	ENSP00000459237.2:p.Arg196Lys
ENST00000697377.2:c.593G>A	ENSP00000513286.2:p.Arg198Lys
ENST00000697379.2:c.593G>A	ENSP00000513287.2:p.Arg198Lys
ENST00000561514.2:c.-299G>A	ENSP00000460666.2:n.-299G>A
ENST00000697374.1:c.-299G>A	ENSP00000513284.1:n.-299G>A
ENST00000697375.1:n.1934G>A
ENST00000697376.1:c.-299G>A	ENSP00000513285.1:n.-299G>A
ENST00000697377.1:c.-299G>A	ENSP00000513286.1:n.-299G>A
ENST00000697378.1:n.1107G>A
ENST00000697379.1:c.-299G>A	ENSP00000513287.1:n.-299G>A
ENST00000697382.1:c.-299G>A	ENSP00000513288.1:n.-299G>A
ENST00000697383.1:c.48+5151G>A	ENSP00000513289.1:n.48+5151G>A
ENST00000697384.1:n.741G>A
ENST00000261584.9:c.587G>A MANE Select	ENSP00000261584.4:p.Arg196Lys
ENST00000261584.8:c.587G>A	ENSP00000261584.4:p.Arg196Lys
ENST00000565038.1:c.86+1891G>A
ENST00000568219.5:c.-299G>A	ENSP00000454703.2:n.-299G>A
NM_024675.3:c.587G>A , LRG_308t1:c.587G>A	NP_078951.2:p.Arg196Lys
XM_011545946.1:c.593G>A	XP_011544248.1:p.Arg198Lys
XM_011545947.1:c.593G>A	XP_011544249.1:p.Arg198Lys
XM_011545948.1:c.-299G>A	XP_011544250.1:n.-299G>A
XR_950851.1:n.1383G>A
XM_011545946.2:c.593G>A	XP_011544248.1:p.Arg198Lys
XM_011545947.2:c.593G>A	XP_011544249.1:p.Arg198Lys
XM_011545948.2:c.-299G>A	XP_011544250.1:n.-299G>A
XM_017023671.1:c.593G>A	XP_016879160.1:p.Arg198Lys
XM_017023672.2:c.587G>A	XP_016879161.1:p.Arg196Lys
XM_017023673.2:c.587G>A	XP_016879162.1:p.Arg196Lys
NM_024675.4:c.587G>A MANE Select	NP_078951.2:p.Arg196Lys