Canonical Allele Identifier: CA395144866

Gene: PALB2

Linked Data

• dbSNP Id: rs2142342958
• MyVariant Identifiers: chr16:g.23635346C>G (hg19) ; chr16:g.23624025C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624025C>G , CM000678.2:g.23624025C>G	GRCh38
NC_000016.9:g.23635346C>G , CM000678.1:g.23635346C>G	GRCh37
NC_000016.8:g.23542847C>G	NCBI36
NG_007406.1:g.22333G>C , LRG_308:g.22333G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2824G>C	ENSP00000460666.3:p.Glu942Gln
ENST00000565038.2:c.*299G>C	ENSP00000459882.2:n.*299G>C
ENST00000566069.6:c.2818G>C	ENSP00000459237.2:p.Glu940Gln
ENST00000697377.2:c.2662G>C	ENSP00000513286.2:p.Glu888Gln
ENST00000697379.2:c.2824G>C	ENSP00000513287.2:p.Glu942Gln
ENST00000561514.2:c.1933G>C	ENSP00000460666.2:p.Glu645Gln
ENST00000697374.1:c.1933G>C	ENSP00000513284.1:p.Glu645Gln
ENST00000697375.1:n.4165G>C
ENST00000697376.1:c.1933G>C	ENSP00000513285.1:p.Glu645Gln
ENST00000697377.1:c.1771G>C	ENSP00000513286.1:p.Glu591Gln
ENST00000697378.1:n.3338G>C
ENST00000697379.1:c.1933G>C	ENSP00000513287.1:p.Glu645Gln
ENST00000697380.1:n.2110G>C
ENST00000697381.1:n.1513G>C
ENST00000697382.1:c.1933G>C	ENSP00000513288.1:p.Glu645Gln
ENST00000697383.1:c.352G>C	ENSP00000513289.1:p.Glu118Gln
ENST00000261584.9:c.2818G>C MANE Select	ENSP00000261584.4:p.Glu940Gln
ENST00000261584.8:c.2818G>C	ENSP00000261584.4:p.Glu940Gln
ENST00000568219.5:c.1933G>C	ENSP00000454703.2:p.Glu645Gln
NM_024675.3:c.2818G>C , LRG_308t1:c.2818G>C	NP_078951.2:p.Glu940Gln
XM_011545946.1:c.2824G>C	XP_011544248.1:p.Glu942Gln
XM_011545947.1:c.2824G>C	XP_011544249.1:p.Glu942Gln
XM_011545948.1:c.1933G>C	XP_011544250.1:p.Glu645Gln
XR_950851.1:n.3614G>C
XM_011545946.2:c.2824G>C	XP_011544248.1:p.Glu942Gln
XM_011545947.2:c.2824G>C	XP_011544249.1:p.Glu942Gln
XM_011545948.2:c.1933G>C	XP_011544250.1:p.Glu645Gln
XM_017023671.1:c.2824G>C	XP_016879160.1:p.Glu942Gln
XM_017023672.2:c.2818G>C	XP_016879161.1:p.Glu940Gln
XM_017023673.2:c.2818G>C	XP_016879162.1:p.Glu940Gln
NM_024675.4:c.2818G>C MANE Select	NP_078951.2:p.Glu940Gln