Canonical Allele Identifier: CA395144098

Gene: PALB2

Linked Data

• ClinVar Variation Id: 530050
• ClinVar RCV Id: RCV000635644
• dbSNP Id: rs775585445
• MyVariant Identifiers: chr16:g.23634343A>C (hg19) ; chr16:g.23623022A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623022A>C , CM000678.2:g.23623022A>C	GRCh38
NC_000016.9:g.23634343A>C , CM000678.1:g.23634343A>C	GRCh37
NC_000016.8:g.23541844A>C	NCBI36
NG_007406.1:g.23336T>G , LRG_308:g.23336T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2949T>G	ENSP00000460666.3:p.Ser983Arg
ENST00000565038.2:c.*424T>G	ENSP00000459882.2:n.*424T>G
ENST00000566069.6:c.2943T>G	ENSP00000459237.2:p.Ser981Arg
ENST00000697377.2:c.2787T>G	ENSP00000513286.2:p.Ser929Arg
ENST00000697379.2:c.2949T>G	ENSP00000513287.2:p.Ser983Arg
ENST00000561514.2:c.2058T>G	ENSP00000460666.2:p.Ser686Arg
ENST00000697374.1:c.2058T>G	ENSP00000513284.1:p.Ser686Arg
ENST00000697375.1:n.4290T>G
ENST00000697376.1:c.2058T>G	ENSP00000513285.1:p.Ser686Arg
ENST00000697377.1:c.1896T>G	ENSP00000513286.1:p.Ser632Arg
ENST00000697378.1:n.3463T>G
ENST00000697379.1:c.2058T>G	ENSP00000513287.1:p.Ser686Arg
ENST00000697380.1:n.2235T>G
ENST00000697381.1:n.1638T>G
ENST00000697382.1:c.2058T>G	ENSP00000513288.1:p.Ser686Arg
ENST00000697383.1:c.477T>G	ENSP00000513289.1:p.Ser159Arg
ENST00000261584.9:c.2943T>G MANE Select	ENSP00000261584.4:p.Ser981Arg
ENST00000261584.8:c.2943T>G	ENSP00000261584.4:p.Ser981Arg
ENST00000568219.5:c.2058T>G	ENSP00000454703.2:p.Ser686Arg
NM_024675.3:c.2943T>G , LRG_308t1:c.2943T>G	NP_078951.2:p.Ser981Arg
XM_011545946.1:c.2949T>G	XP_011544248.1:p.Ser983Arg
XM_011545947.1:c.2949T>G	XP_011544249.1:p.Ser983Arg
XM_011545948.1:c.2058T>G	XP_011544250.1:p.Ser686Arg
XR_950851.1:n.3739T>G
XM_011545946.2:c.2949T>G	XP_011544248.1:p.Ser983Arg
XM_011545947.2:c.2949T>G	XP_011544249.1:p.Ser983Arg
XM_011545948.2:c.2058T>G	XP_011544250.1:p.Ser686Arg
XM_017023671.1:c.2949T>G	XP_016879160.1:p.Ser983Arg
XM_017023672.2:c.2943T>G	XP_016879161.1:p.Ser981Arg
XM_017023673.2:c.2943T>G	XP_016879162.1:p.Ser981Arg
NM_024675.4:c.2943T>G MANE Select	NP_078951.2:p.Ser981Arg