Canonical Allele Identifier: CA279505144

Gene: PALB2

Linked Data

• dbSNP Id: rs1006197809
• gnomAD v3: 16-23640971-T-C
• gnomAD v4: 16-23640971-T-C
• MyVariant Identifiers: chr16:g.23652292T>C (hg19) ; chr16:g.23640971T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23640971T>C , CM000678.2:g.23640971T>C	GRCh38
NC_000016.9:g.23652292T>C , CM000678.1:g.23652292T>C	GRCh37
NC_000016.8:g.23559793T>C	NCBI36
NG_007406.1:g.5387A>G , LRG_308:g.5387A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.-666A>G	ENSP00000460666.3:n.-666A>G
ENST00000565038.2:c.48+139A>G	ENSP00000459882.2:n.48+139A>G
ENST00000566069.6:c.48+139A>G	ENSP00000459237.2:n.48+139A>G
ENST00000697377.2:c.-192+139A>G	ENSP00000513286.2:n.-192+139A>G
ENST00000697379.2:c.-98+139A>G	ENSP00000513287.2:n.-98+139A>G
ENST00000561514.2:c.-1557A>G	ENSP00000460666.2:n.-1557A>G
ENST00000697374.1:c.-1148A>G	ENSP00000513284.1:n.-1148A>G
ENST00000697376.1:c.-1008+139A>G	ENSP00000513285.1:n.-1008+139A>G
ENST00000697377.1:c.-1083+139A>G	ENSP00000513286.1:n.-1083+139A>G
ENST00000697379.1:c.-989+139A>G	ENSP00000513287.1:n.-989+139A>G
ENST00000697382.1:c.-1608A>G	ENSP00000513288.1:n.-1608A>G
ENST00000697383.1:c.48+139A>G	ENSP00000513289.1:n.48+139A>G
ENST00000697384.1:n.202+139A>G
ENST00000261584.9:c.48+139A>G MANE Select	ENSP00000261584.4:n.48+139A>G
ENST00000261584.8:c.48+139A>G	ENSP00000261584.4:n.48+139A>G
ENST00000567003.1:n.192+139A>G
ENST00000568219.5:c.-838+156A>G	ENSP00000454703.2:n.-838+156A>G
NM_024675.3:c.48+139A>G , LRG_308t1:c.48+139A>G	NP_078951.2:n.48+139A>G
XM_011545946.1:c.-666A>G	XP_011544248.1:n.-666A>G
XM_011545947.1:c.-666A>G	XP_011544249.1:n.-666A>G
XM_011545948.1:c.-972+139A>G	XP_011544250.1:n.-972+139A>G
XR_950851.1:n.125A>G
XM_011545946.2:c.-666A>G	XP_011544248.1:n.-666A>G
XM_011545947.2:c.-666A>G	XP_011544249.1:n.-666A>G
XM_011545948.2:c.-972+139A>G	XP_011544250.1:n.-972+139A>G
XM_017023671.1:c.-666A>G	XP_016879160.1:n.-666A>G
XM_017023672.2:c.48+139A>G	XP_016879161.1:n.48+139A>G
XM_017023673.2:c.48+139A>G	XP_016879162.1:n.48+139A>G
NM_024675.4:c.48+139A>G MANE Select	NP_078951.2:n.48+139A>G