Canonical Allele Identifier: CA494173785

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2773992
• ClinVar RCV Id: RCV003585678
• MyVariant Identifiers: chr16:g.23614963G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603642G>A , CM000678.2:g.23603642G>A	GRCh38
NC_000016.9:g.23614963G>A , CM000678.1:g.23614963G>A	GRCh37
NC_000016.8:g.23522464G>A	NCBI36
NG_007406.1:g.42716C>T , LRG_308:g.42716C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3384C>T	ENSP00000460666.3:p.His1128=
ENST00000565038.2:c.*863C>T	ENSP00000459882.2:n.*863C>T
ENST00000566069.6:c.*13C>T	ENSP00000459237.2:n.*13C>T
ENST00000697377.2:c.3222C>T	ENSP00000513286.2:p.His1074=
ENST00000697379.2:c.3384C>T	ENSP00000513287.2:p.His1128=
ENST00000561514.2:c.2493C>T	ENSP00000460666.2:p.His831=
ENST00000697374.1:c.2493C>T	ENSP00000513284.1:p.His831=
ENST00000697375.1:n.4725C>T
ENST00000697376.1:c.*13C>T	ENSP00000513285.1:n.*13C>T
ENST00000697377.1:c.2331C>T	ENSP00000513286.1:p.His777=
ENST00000697378.1:n.3898C>T
ENST00000697379.1:c.2493C>T	ENSP00000513287.1:p.His831=
ENST00000697380.1:n.2582C>T
ENST00000697381.1:n.2073C>T
ENST00000697382.1:c.*155C>T	ENSP00000513288.1:n.*155C>T
ENST00000697383.1:c.912C>T	ENSP00000513289.1:p.His304=
ENST00000261584.9:c.3378C>T MANE Select	ENSP00000261584.4:p.His1126=
ENST00000261584.8:c.3378C>T	ENSP00000261584.4:p.His1126=
ENST00000566069.5:c.144C>T
ENST00000568219.5:c.2493C>T	ENSP00000454703.2:p.His831=
NM_024675.3:c.3378C>T , LRG_308t1:c.3378C>T	NP_078951.2:p.His1126=
XM_011545946.1:c.3384C>T	XP_011544248.1:p.His1128=
XM_011545947.1:c.*13C>T	XP_011544249.1:n.*13C>T
XM_011545948.1:c.2493C>T	XP_011544250.1:p.His831=
XR_950851.1:n.4086C>T
XM_011545946.2:c.3384C>T	XP_011544248.1:p.His1128=
XM_011545947.2:c.*13C>T	XP_011544249.1:n.*13C>T
XM_011545948.2:c.2493C>T	XP_011544250.1:p.His831=
XM_017023671.1:c.3147C>T	XP_016879160.1:p.His1049=
XM_017023672.2:c.3141C>T	XP_016879161.1:p.His1047=
XM_017023673.2:c.*13C>T	XP_016879162.1:n.*13C>T
NM_024675.4:c.3378C>T MANE Select	NP_078951.2:p.His1126=