Canonical Allele Identifier: CA10580062

Gene: PALB2

Linked Data

• ClinVar Variation Id: 232241
• ClinVar RCV Id: RCV000217002 ; RCV000635910 ; RCV000759904 ; RCV001358719 ; RCV002500733
• dbSNP Id: rs876659643
• gnomAD v4: 16-23641129-C-A
• MyVariant Identifiers: chr16:g.23652450C>A (hg19) ; chr16:g.23641129C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641129C>A , CM000678.2:g.23641129C>A	GRCh38
NC_000016.9:g.23652450C>A , CM000678.1:g.23652450C>A	GRCh37
NC_000016.8:g.23559951C>A	NCBI36
NG_007406.1:g.5229G>T , LRG_308:g.5229G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-824G>T	ENSP00000460666.3:n.-824G>T
ENST00000565038.2:c.29G>T	ENSP00000459882.2:p.Ser10Ile
ENST00000566069.6:c.29G>T	ENSP00000459237.2:p.Ser10Ile
ENST00000697377.2:c.-211G>T	ENSP00000513286.2:n.-211G>T
ENST00000697379.2:c.-117G>T	ENSP00000513287.2:n.-117G>T
ENST00000561514.2:c.-1715G>T	ENSP00000460666.2:n.-1715G>T
ENST00000697374.1:c.-1306G>T	ENSP00000513284.1:n.-1306G>T
ENST00000697376.1:c.-1027G>T	ENSP00000513285.1:n.-1027G>T
ENST00000697377.1:c.-1102G>T	ENSP00000513286.1:n.-1102G>T
ENST00000697379.1:c.-1008G>T	ENSP00000513287.1:n.-1008G>T
ENST00000697382.1:c.-1766G>T	ENSP00000513288.1:n.-1766G>T
ENST00000697383.1:c.29G>T	ENSP00000513289.1:p.Ser10Ile
ENST00000697384.1:n.183G>T
ENST00000261584.9:c.29G>T MANE Select	ENSP00000261584.4:p.Ser10Ile
ENST00000261584.8:c.29G>T	ENSP00000261584.4:p.Ser10Ile
ENST00000567003.1:n.173G>T
ENST00000568219.5:c.-840G>T	ENSP00000454703.2:n.-840G>T
NM_024675.3:c.29G>T , LRG_308t1:c.29G>T	NP_078951.2:p.Ser10Ile
XM_011545948.1:c.-991G>T	XP_011544250.1:n.-991G>T
XM_011545946.2:c.-824G>T	XP_011544248.1:n.-824G>T
XM_011545947.2:c.-824G>T	XP_011544249.1:n.-824G>T
XM_011545948.2:c.-991G>T	XP_011544250.1:n.-991G>T
XM_017023671.1:c.-824G>T	XP_016879160.1:n.-824G>T
XM_017023672.2:c.29G>T	XP_016879161.1:p.Ser10Ile
XM_017023673.2:c.29G>T	XP_016879162.1:p.Ser10Ile
NM_024675.4:c.29G>T MANE Select	NP_078951.2:p.Ser10Ile