Canonical Allele Identifier: CA395144140

Gene: PALB2

Linked Data

• ClinVar Variation Id: 918664
• ClinVar RCV Id: RCV001176392
• dbSNP Id: rs1417567084
• gnomAD v4: 16-23623029-C-A
• MyVariant Identifiers: chr16:g.23634350C>A (hg19) ; chr16:g.23623029C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623029C>A , CM000678.2:g.23623029C>A	GRCh38
NC_000016.9:g.23634350C>A , CM000678.1:g.23634350C>A	GRCh37
NC_000016.8:g.23541851C>A	NCBI36
NG_007406.1:g.23329G>T , LRG_308:g.23329G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2942G>T	ENSP00000460666.3:p.Ser981Ile
ENST00000565038.2:c.*417G>T	ENSP00000459882.2:n.*417G>T
ENST00000566069.6:c.2936G>T	ENSP00000459237.2:p.Ser979Ile
ENST00000697377.2:c.2780G>T	ENSP00000513286.2:p.Ser927Ile
ENST00000697379.2:c.2942G>T	ENSP00000513287.2:p.Ser981Ile
ENST00000561514.2:c.2051G>T	ENSP00000460666.2:p.Ser684Ile
ENST00000697374.1:c.2051G>T	ENSP00000513284.1:p.Ser684Ile
ENST00000697375.1:n.4283G>T
ENST00000697376.1:c.2051G>T	ENSP00000513285.1:p.Ser684Ile
ENST00000697377.1:c.1889G>T	ENSP00000513286.1:p.Ser630Ile
ENST00000697378.1:n.3456G>T
ENST00000697379.1:c.2051G>T	ENSP00000513287.1:p.Ser684Ile
ENST00000697380.1:n.2228G>T
ENST00000697381.1:n.1631G>T
ENST00000697382.1:c.2051G>T	ENSP00000513288.1:p.Ser684Ile
ENST00000697383.1:c.470G>T	ENSP00000513289.1:p.Ser157Ile
ENST00000261584.9:c.2936G>T MANE Select	ENSP00000261584.4:p.Ser979Ile
ENST00000261584.8:c.2936G>T	ENSP00000261584.4:p.Ser979Ile
ENST00000568219.5:c.2051G>T	ENSP00000454703.2:p.Ser684Ile
NM_024675.3:c.2936G>T , LRG_308t1:c.2936G>T	NP_078951.2:p.Ser979Ile
XM_011545946.1:c.2942G>T	XP_011544248.1:p.Ser981Ile
XM_011545947.1:c.2942G>T	XP_011544249.1:p.Ser981Ile
XM_011545948.1:c.2051G>T	XP_011544250.1:p.Ser684Ile
XR_950851.1:n.3732G>T
XM_011545946.2:c.2942G>T	XP_011544248.1:p.Ser981Ile
XM_011545947.2:c.2942G>T	XP_011544249.1:p.Ser981Ile
XM_011545948.2:c.2051G>T	XP_011544250.1:p.Ser684Ile
XM_017023671.1:c.2942G>T	XP_016879160.1:p.Ser981Ile
XM_017023672.2:c.2936G>T	XP_016879161.1:p.Ser979Ile
XM_017023673.2:c.2936G>T	XP_016879162.1:p.Ser979Ile
NM_024675.4:c.2936G>T MANE Select	NP_078951.2:p.Ser979Ile