Canonical Allele Identifier: CA395122040

Gene: PALB2

Linked Data

• ClinVar Variation Id: 492195
• ClinVar RCV Id: RCV000582849 ; RCV002529275
• dbSNP Id: rs78179744
• MyVariant Identifiers: chr16:g.23637632G>T (hg19) ; chr16:g.23626311G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23626311G>T , CM000678.2:g.23626311G>T	GRCh38
NC_000016.9:g.23637632G>T , CM000678.1:g.23637632G>T	GRCh37
NC_000016.8:g.23545133G>T	NCBI36
NG_007406.1:g.20047C>A , LRG_308:g.20047C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2679C>A	ENSP00000460666.3:p.Cys893Ter
ENST00000565038.2:c.*154C>A	ENSP00000459882.2:n.*154C>A
ENST00000566069.6:c.2673C>A	ENSP00000459237.2:p.Cys891Ter
ENST00000697377.2:c.2593-2217C>A	ENSP00000513286.2:n.2593-2217C>A
ENST00000697379.2:c.2679C>A	ENSP00000513287.2:p.Cys893Ter
ENST00000561514.2:c.1788C>A	ENSP00000460666.2:p.Cys596Ter
ENST00000697374.1:c.1788C>A	ENSP00000513284.1:p.Cys596Ter
ENST00000697375.1:n.4020C>A
ENST00000697376.1:c.1788C>A	ENSP00000513285.1:p.Cys596Ter
ENST00000697377.1:c.1702-2217C>A	ENSP00000513286.1:n.1702-2217C>A
ENST00000697378.1:n.3193C>A
ENST00000697379.1:c.1788C>A	ENSP00000513287.1:p.Cys596Ter
ENST00000697380.1:n.1965C>A
ENST00000697381.1:n.1368C>A
ENST00000697382.1:c.1788C>A	ENSP00000513288.1:p.Cys596Ter
ENST00000697383.1:c.207C>A	ENSP00000513289.1:p.Cys69Ter
ENST00000261584.9:c.2673C>A MANE Select	ENSP00000261584.4:p.Cys891Ter
ENST00000261584.8:c.2673C>A	ENSP00000261584.4:p.Cys891Ter
ENST00000565038.1:c.245C>A
ENST00000568219.5:c.1788C>A	ENSP00000454703.2:p.Cys596Ter
NM_024675.3:c.2673C>A , LRG_308t1:c.2673C>A	NP_078951.2:p.Cys891Ter
XM_011545946.1:c.2679C>A	XP_011544248.1:p.Cys893Ter
XM_011545947.1:c.2679C>A	XP_011544249.1:p.Cys893Ter
XM_011545948.1:c.1788C>A	XP_011544250.1:p.Cys596Ter
XR_950851.1:n.3469C>A
XM_011545946.2:c.2679C>A	XP_011544248.1:p.Cys893Ter
XM_011545947.2:c.2679C>A	XP_011544249.1:p.Cys893Ter
XM_011545948.2:c.1788C>A	XP_011544250.1:p.Cys596Ter
XM_017023671.1:c.2679C>A	XP_016879160.1:p.Cys893Ter
XM_017023672.2:c.2673C>A	XP_016879161.1:p.Cys891Ter
XM_017023673.2:c.2673C>A	XP_016879162.1:p.Cys891Ter
NM_024675.4:c.2673C>A MANE Select	NP_078951.2:p.Cys891Ter