Canonical Allele Identifier: CA395138848

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1199614
• ClinVar RCV Id: RCV001564336 ; RCV001865990
• dbSNP Id: rs2142447132
• MyVariant Identifiers: chr16:g.23647590C>T (hg19) ; chr16:g.23636269C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636269C>T , CM000678.2:g.23636269C>T	GRCh38
NC_000016.9:g.23647590C>T , CM000678.1:g.23647590C>T	GRCh37
NC_000016.8:g.23555091C>T	NCBI36
NG_007406.1:g.10089G>A , LRG_308:g.10089G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.283G>A	ENSP00000460666.3:p.Gly95Arg
ENST00000565038.2:c.211+1581G>A	ENSP00000459882.2:n.211+1581G>A
ENST00000566069.6:c.277G>A	ENSP00000459237.2:p.Gly93Arg
ENST00000697377.2:c.283G>A	ENSP00000513286.2:p.Gly95Arg
ENST00000697379.2:c.283G>A	ENSP00000513287.2:p.Gly95Arg
ENST00000561514.2:c.-609G>A	ENSP00000460666.2:n.-609G>A
ENST00000697374.1:c.-609G>A	ENSP00000513284.1:n.-609G>A
ENST00000697375.1:n.1624G>A
ENST00000697376.1:c.-609G>A	ENSP00000513285.1:n.-609G>A
ENST00000697377.1:c.-609G>A	ENSP00000513286.1:n.-609G>A
ENST00000697378.1:n.797G>A
ENST00000697379.1:c.-609G>A	ENSP00000513287.1:n.-609G>A
ENST00000697382.1:c.-609G>A	ENSP00000513288.1:n.-609G>A
ENST00000697383.1:c.48+4841G>A	ENSP00000513289.1:n.48+4841G>A
ENST00000697384.1:n.431G>A
ENST00000261584.9:c.277G>A MANE Select	ENSP00000261584.4:p.Gly93Arg
ENST00000261584.8:c.277G>A	ENSP00000261584.4:p.Gly93Arg
ENST00000565038.1:c.86+1581G>A
ENST00000567003.1:n.555G>A
ENST00000568219.5:c.-609G>A	ENSP00000454703.2:n.-609G>A
NM_024675.3:c.277G>A , LRG_308t1:c.277G>A	NP_078951.2:p.Gly93Arg
XM_011545946.1:c.283G>A	XP_011544248.1:p.Gly95Arg
XM_011545947.1:c.283G>A	XP_011544249.1:p.Gly95Arg
XM_011545948.1:c.-609G>A	XP_011544250.1:n.-609G>A
XR_950851.1:n.1073G>A
XM_011545946.2:c.283G>A	XP_011544248.1:p.Gly95Arg
XM_011545947.2:c.283G>A	XP_011544249.1:p.Gly95Arg
XM_011545948.2:c.-609G>A	XP_011544250.1:n.-609G>A
XM_017023671.1:c.283G>A	XP_016879160.1:p.Gly95Arg
XM_017023672.2:c.277G>A	XP_016879161.1:p.Gly93Arg
XM_017023673.2:c.277G>A	XP_016879162.1:p.Gly93Arg
NM_024675.4:c.277G>A MANE Select	NP_078951.2:p.Gly93Arg