Canonical Allele Identifier: CA7963346

Gene: PALB2

Linked Data

• ClinVar Variation Id: 490083
• ClinVar RCV Id: RCV000579960 ; RCV000701458 ; RCV001030414 ; RCV003153752
• dbSNP Id: rs767830005
• ExAC: 16:23614962 A / G
• gnomAD v2: 16-23614962-A-G
• gnomAD v3: 16-23603641-A-G
• gnomAD v4: 16-23603641-A-G
• MyVariant Identifiers: chr16:g.23614962A>G (hg19) ; chr16:g.23603641A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603641A>G , CM000678.2:g.23603641A>G	GRCh38
NC_000016.9:g.23614962A>G , CM000678.1:g.23614962A>G	GRCh37
NC_000016.8:g.23522463A>G	NCBI36
NG_007406.1:g.42717T>C , LRG_308:g.42717T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3385T>C	ENSP00000460666.3:p.Cys1129Arg
ENST00000565038.2:c.*864T>C	ENSP00000459882.2:n.*864T>C
ENST00000566069.6:c.*14T>C	ENSP00000459237.2:n.*14T>C
ENST00000697377.2:c.3223T>C	ENSP00000513286.2:p.Cys1075Arg
ENST00000697379.2:c.3385T>C	ENSP00000513287.2:p.Cys1129Arg
ENST00000561514.2:c.2494T>C	ENSP00000460666.2:p.Cys832Arg
ENST00000697374.1:c.2494T>C	ENSP00000513284.1:p.Cys832Arg
ENST00000697375.1:n.4726T>C
ENST00000697376.1:c.*14T>C	ENSP00000513285.1:n.*14T>C
ENST00000697377.1:c.2332T>C	ENSP00000513286.1:p.Cys778Arg
ENST00000697378.1:n.3899T>C
ENST00000697379.1:c.2494T>C	ENSP00000513287.1:p.Cys832Arg
ENST00000697380.1:n.2583T>C
ENST00000697381.1:n.2074T>C
ENST00000697382.1:c.*156T>C	ENSP00000513288.1:n.*156T>C
ENST00000697383.1:c.913T>C	ENSP00000513289.1:p.Cys305Arg
ENST00000261584.9:c.3379T>C MANE Select	ENSP00000261584.4:p.Cys1127Arg
ENST00000261584.8:c.3379T>C	ENSP00000261584.4:p.Cys1127Arg
ENST00000566069.5:c.145T>C
ENST00000568219.5:c.2494T>C	ENSP00000454703.2:p.Cys832Arg
NM_024675.3:c.3379T>C , LRG_308t1:c.3379T>C	NP_078951.2:p.Cys1127Arg
XM_011545946.1:c.3385T>C	XP_011544248.1:p.Cys1129Arg
XM_011545947.1:c.*14T>C	XP_011544249.1:n.*14T>C
XM_011545948.1:c.2494T>C	XP_011544250.1:p.Cys832Arg
XR_950851.1:n.4087T>C
XM_011545946.2:c.3385T>C	XP_011544248.1:p.Cys1129Arg
XM_011545947.2:c.*14T>C	XP_011544249.1:n.*14T>C
XM_011545948.2:c.2494T>C	XP_011544250.1:p.Cys832Arg
XM_017023671.1:c.3148T>C	XP_016879160.1:p.Cys1050Arg
XM_017023672.2:c.3142T>C	XP_016879161.1:p.Cys1048Arg
XM_017023673.2:c.*14T>C	XP_016879162.1:n.*14T>C
NM_024675.4:c.3379T>C MANE Select	NP_078951.2:p.Cys1127Arg