Canonical Allele Identifier: CA395137885

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1901623
• ClinVar RCV Id: RCV002577109
• dbSNP Id: rs2142251927
• MyVariant Identifiers: chr16:g.23614836A>T (hg19) ; chr16:g.23603515A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603515A>T , CM000678.2:g.23603515A>T	GRCh38
NC_000016.9:g.23614836A>T , CM000678.1:g.23614836A>T	GRCh37
NC_000016.8:g.23522337A>T	NCBI36
NG_007406.1:g.42843T>A , LRG_308:g.42843T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3511T>A	ENSP00000460666.3:p.Ser1171Thr
ENST00000565038.2:c.*990T>A	ENSP00000459882.2:n.*990T>A
ENST00000566069.6:c.*140T>A	ENSP00000459237.2:n.*140T>A
ENST00000697377.2:c.3349T>A	ENSP00000513286.2:p.Ser1117Thr
ENST00000697379.2:c.3511T>A	ENSP00000513287.2:p.Ser1171Thr
ENST00000561514.2:c.2620T>A	ENSP00000460666.2:p.Ser874Thr
ENST00000697374.1:c.2620T>A	ENSP00000513284.1:p.Ser874Thr
ENST00000697375.1:n.4852T>A
ENST00000697376.1:c.*140T>A	ENSP00000513285.1:n.*140T>A
ENST00000697377.1:c.2458T>A	ENSP00000513286.1:p.Ser820Thr
ENST00000697378.1:n.4025T>A
ENST00000697379.1:c.2620T>A	ENSP00000513287.1:p.Ser874Thr
ENST00000697380.1:n.2709T>A
ENST00000697381.1:n.2200T>A
ENST00000697382.1:c.*282T>A	ENSP00000513288.1:n.*282T>A
ENST00000697383.1:c.1039T>A	ENSP00000513289.1:p.Ser347Thr
ENST00000261584.9:c.3505T>A MANE Select	ENSP00000261584.4:p.Ser1169Thr
ENST00000261584.8:c.3505T>A	ENSP00000261584.4:p.Ser1169Thr
ENST00000566069.5:c.271T>A
ENST00000568219.5:c.2620T>A	ENSP00000454703.2:p.Ser874Thr
NM_024675.3:c.3505T>A , LRG_308t1:c.3505T>A	NP_078951.2:p.Ser1169Thr
XM_011545946.1:c.3511T>A	XP_011544248.1:p.Ser1171Thr
XM_011545947.1:c.*140T>A	XP_011544249.1:n.*140T>A
XM_011545948.1:c.2620T>A	XP_011544250.1:p.Ser874Thr
XR_950851.1:n.4213T>A
XM_011545946.2:c.3511T>A	XP_011544248.1:p.Ser1171Thr
XM_011545947.2:c.*140T>A	XP_011544249.1:n.*140T>A
XM_011545948.2:c.2620T>A	XP_011544250.1:p.Ser874Thr
XM_017023671.1:c.3274T>A	XP_016879160.1:p.Ser1092Thr
XM_017023672.2:c.3268T>A	XP_016879161.1:p.Ser1090Thr
XM_017023673.2:c.*140T>A	XP_016879162.1:n.*140T>A
NM_024675.4:c.3505T>A MANE Select	NP_078951.2:p.Ser1169Thr