Canonical Allele Identifier: CA395138028

Gene: PALB2

Linked Data

• ClinVar Variation Id: 823806
• ClinVar RCV Id: RCV001020375 ; RCV001860983 ; RCV003226417
• dbSNP Id: rs1597062038
• MyVariant Identifiers: chr16:g.23614872G>A (hg19) ; chr16:g.23603551G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603551G>A , CM000678.2:g.23603551G>A	GRCh38
NC_000016.9:g.23614872G>A , CM000678.1:g.23614872G>A	GRCh37
NC_000016.8:g.23522373G>A	NCBI36
NG_007406.1:g.42807C>T , LRG_308:g.42807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3475C>T	ENSP00000460666.3:p.Gln1159Ter
ENST00000565038.2:c.*954C>T	ENSP00000459882.2:n.*954C>T
ENST00000566069.6:c.*104C>T	ENSP00000459237.2:n.*104C>T
ENST00000697377.2:c.3313C>T	ENSP00000513286.2:p.Gln1105Ter
ENST00000697379.2:c.3475C>T	ENSP00000513287.2:p.Gln1159Ter
ENST00000561514.2:c.2584C>T	ENSP00000460666.2:p.Gln862Ter
ENST00000697374.1:c.2584C>T	ENSP00000513284.1:p.Gln862Ter
ENST00000697375.1:n.4816C>T
ENST00000697376.1:c.*104C>T	ENSP00000513285.1:n.*104C>T
ENST00000697377.1:c.2422C>T	ENSP00000513286.1:p.Gln808Ter
ENST00000697378.1:n.3989C>T
ENST00000697379.1:c.2584C>T	ENSP00000513287.1:p.Gln862Ter
ENST00000697380.1:n.2673C>T
ENST00000697381.1:n.2164C>T
ENST00000697382.1:c.*246C>T	ENSP00000513288.1:n.*246C>T
ENST00000697383.1:c.1003C>T	ENSP00000513289.1:p.Gln335Ter
ENST00000261584.9:c.3469C>T MANE Select	ENSP00000261584.4:p.Gln1157Ter
ENST00000261584.8:c.3469C>T	ENSP00000261584.4:p.Gln1157Ter
ENST00000566069.5:c.235C>T
ENST00000568219.5:c.2584C>T	ENSP00000454703.2:p.Gln862Ter
NM_024675.3:c.3469C>T , LRG_308t1:c.3469C>T	NP_078951.2:p.Gln1157Ter
XM_011545946.1:c.3475C>T	XP_011544248.1:p.Gln1159Ter
XM_011545947.1:c.*104C>T	XP_011544249.1:n.*104C>T
XM_011545948.1:c.2584C>T	XP_011544250.1:p.Gln862Ter
XR_950851.1:n.4177C>T
XM_011545946.2:c.3475C>T	XP_011544248.1:p.Gln1159Ter
XM_011545947.2:c.*104C>T	XP_011544249.1:n.*104C>T
XM_011545948.2:c.2584C>T	XP_011544250.1:p.Gln862Ter
XM_017023671.1:c.3238C>T	XP_016879160.1:p.Gln1080Ter
XM_017023672.2:c.3232C>T	XP_016879161.1:p.Gln1078Ter
XM_017023673.2:c.*104C>T	XP_016879162.1:n.*104C>T
NM_024675.4:c.3469C>T MANE Select	NP_078951.2:p.Gln1157Ter