Canonical Allele Identifier: CA349481

Gene: PALB2

Linked Data

• ClinVar Variation Id: 220654
• ClinVar RCV Id: RCV000205323 ; RCV000215139 ; RCV000484020 ; RCV003114369
• dbSNP Id: rs864622622
• MyVariant Identifiers: chr16:g.23647359T>C (hg19) ; chr16:g.23636038T>C (hg38)
• PubMed: PMID:26283626

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636038T>C , CM000678.2:g.23636038T>C	GRCh38
NC_000016.9:g.23647359T>C , CM000678.1:g.23647359T>C	GRCh37
NC_000016.8:g.23554860T>C	NCBI36
NG_007406.1:g.10320A>G , LRG_308:g.10320A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.514A>G	ENSP00000460666.3:p.Arg172Gly
ENST00000565038.2:c.211+1812A>G	ENSP00000459882.2:n.211+1812A>G
ENST00000566069.6:c.508A>G	ENSP00000459237.2:p.Arg170Gly
ENST00000697377.2:c.514A>G	ENSP00000513286.2:p.Arg172Gly
ENST00000697379.2:c.514A>G	ENSP00000513287.2:p.Arg172Gly
ENST00000561514.2:c.-378A>G	ENSP00000460666.2:n.-378A>G
ENST00000697374.1:c.-378A>G	ENSP00000513284.1:n.-378A>G
ENST00000697375.1:n.1855A>G
ENST00000697376.1:c.-378A>G	ENSP00000513285.1:n.-378A>G
ENST00000697377.1:c.-378A>G	ENSP00000513286.1:n.-378A>G
ENST00000697378.1:n.1028A>G
ENST00000697379.1:c.-378A>G	ENSP00000513287.1:n.-378A>G
ENST00000697382.1:c.-378A>G	ENSP00000513288.1:n.-378A>G
ENST00000697383.1:c.48+5072A>G	ENSP00000513289.1:n.48+5072A>G
ENST00000697384.1:n.662A>G
ENST00000261584.9:c.508A>G MANE Select	ENSP00000261584.4:p.Arg170Gly
ENST00000261584.8:c.508A>G	ENSP00000261584.4:p.Arg170Gly
ENST00000565038.1:c.86+1812A>G
ENST00000567003.1:n.786A>G
ENST00000568219.5:c.-378A>G	ENSP00000454703.2:n.-378A>G
NM_024675.3:c.508A>G , LRG_308t1:c.508A>G	NP_078951.2:p.Arg170Gly
XM_011545946.1:c.514A>G	XP_011544248.1:p.Arg172Gly
XM_011545947.1:c.514A>G	XP_011544249.1:p.Arg172Gly
XM_011545948.1:c.-378A>G	XP_011544250.1:n.-378A>G
XR_950851.1:n.1304A>G
XM_011545946.2:c.514A>G	XP_011544248.1:p.Arg172Gly
XM_011545947.2:c.514A>G	XP_011544249.1:p.Arg172Gly
XM_011545948.2:c.-378A>G	XP_011544250.1:n.-378A>G
XM_017023671.1:c.514A>G	XP_016879160.1:p.Arg172Gly
XM_017023672.2:c.508A>G	XP_016879161.1:p.Arg170Gly
XM_017023673.2:c.508A>G	XP_016879162.1:p.Arg170Gly
NM_024675.4:c.508A>G MANE Select	NP_078951.2:p.Arg170Gly