Canonical Allele Identifier: CA10580057

Gene: PALB2

Linked Data

• ClinVar Variation Id: 232295
• ClinVar RCV Id: RCV000221819
• dbSNP Id: rs876659679
• MyVariant Identifiers: chr16:g.23652429A>C (hg19) ; chr16:g.23641108A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641108A>C , CM000678.2:g.23641108A>C	GRCh38
NC_000016.9:g.23652429A>C , CM000678.1:g.23652429A>C	GRCh37
NC_000016.8:g.23559930A>C	NCBI36
NG_007406.1:g.5250T>G , LRG_308:g.5250T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-803T>G	ENSP00000460666.3:n.-803T>G
ENST00000565038.2:c.48+2T>G	ENSP00000459882.2:n.48+2T>G
ENST00000566069.6:c.48+2T>G	ENSP00000459237.2:n.48+2T>G
ENST00000697377.2:c.-192+2T>G	ENSP00000513286.2:n.-192+2T>G
ENST00000697379.2:c.-98+2T>G	ENSP00000513287.2:n.-98+2T>G
ENST00000561514.2:c.-1694T>G	ENSP00000460666.2:n.-1694T>G
ENST00000697374.1:c.-1285T>G	ENSP00000513284.1:n.-1285T>G
ENST00000697376.1:c.-1008+2T>G	ENSP00000513285.1:n.-1008+2T>G
ENST00000697377.1:c.-1083+2T>G	ENSP00000513286.1:n.-1083+2T>G
ENST00000697379.1:c.-989+2T>G	ENSP00000513287.1:n.-989+2T>G
ENST00000697382.1:c.-1745T>G	ENSP00000513288.1:n.-1745T>G
ENST00000697383.1:c.48+2T>G	ENSP00000513289.1:n.48+2T>G
ENST00000697384.1:n.202+2T>G
ENST00000261584.9:c.48+2T>G MANE Select	ENSP00000261584.4:n.48+2T>G
ENST00000261584.8:c.48+2T>G	ENSP00000261584.4:n.48+2T>G
ENST00000567003.1:n.192+2T>G
ENST00000568219.5:c.-838+19T>G	ENSP00000454703.2:n.-838+19T>G
NM_024675.3:c.48+2T>G , LRG_308t1:c.48+2T>G	NP_078951.2:n.48+2T>G
XM_011545948.1:c.-972+2T>G	XP_011544250.1:n.-972+2T>G
XM_011545946.2:c.-803T>G	XP_011544248.1:n.-803T>G
XM_011545947.2:c.-803T>G	XP_011544249.1:n.-803T>G
XM_011545948.2:c.-972+2T>G	XP_011544250.1:n.-972+2T>G
XM_017023671.1:c.-803T>G	XP_016879160.1:n.-803T>G
XM_017023672.2:c.48+2T>G	XP_016879161.1:n.48+2T>G
XM_017023673.2:c.48+2T>G	XP_016879162.1:n.48+2T>G
NM_024675.4:c.48+2T>G MANE Select	NP_078951.2:n.48+2T>G