Canonical Allele Identifier: CA395144928

Gene: PALB2

Linked Data

• ClinVar Variation Id: 484164
• ClinVar RCV Id: RCV000571752 ; RCV000819797
• dbSNP Id: rs1555459712
• gnomAD v4: 16-23624034-C-T
• MyVariant Identifiers: chr16:g.23635355C>T (hg19) ; chr16:g.23624034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624034C>T , CM000678.2:g.23624034C>T	GRCh38
NC_000016.9:g.23635355C>T , CM000678.1:g.23635355C>T	GRCh37
NC_000016.8:g.23542856C>T	NCBI36
NG_007406.1:g.22324G>A , LRG_308:g.22324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2815G>A	ENSP00000460666.3:p.Gly939Arg
ENST00000565038.2:c.*290G>A	ENSP00000459882.2:n.*290G>A
ENST00000566069.6:c.2809G>A	ENSP00000459237.2:p.Gly937Arg
ENST00000697377.2:c.2653G>A	ENSP00000513286.2:p.Gly885Arg
ENST00000697379.2:c.2815G>A	ENSP00000513287.2:p.Gly939Arg
ENST00000561514.2:c.1924G>A	ENSP00000460666.2:p.Gly642Arg
ENST00000697374.1:c.1924G>A	ENSP00000513284.1:p.Gly642Arg
ENST00000697375.1:n.4156G>A
ENST00000697376.1:c.1924G>A	ENSP00000513285.1:p.Gly642Arg
ENST00000697377.1:c.1762G>A	ENSP00000513286.1:p.Gly588Arg
ENST00000697378.1:n.3329G>A
ENST00000697379.1:c.1924G>A	ENSP00000513287.1:p.Gly642Arg
ENST00000697380.1:n.2101G>A
ENST00000697381.1:n.1504G>A
ENST00000697382.1:c.1924G>A	ENSP00000513288.1:p.Gly642Arg
ENST00000697383.1:c.343G>A	ENSP00000513289.1:p.Gly115Arg
ENST00000261584.9:c.2809G>A MANE Select	ENSP00000261584.4:p.Gly937Arg
ENST00000261584.8:c.2809G>A	ENSP00000261584.4:p.Gly937Arg
ENST00000568219.5:c.1924G>A	ENSP00000454703.2:p.Gly642Arg
NM_024675.3:c.2809G>A , LRG_308t1:c.2809G>A	NP_078951.2:p.Gly937Arg
XM_011545946.1:c.2815G>A	XP_011544248.1:p.Gly939Arg
XM_011545947.1:c.2815G>A	XP_011544249.1:p.Gly939Arg
XM_011545948.1:c.1924G>A	XP_011544250.1:p.Gly642Arg
XR_950851.1:n.3605G>A
XM_011545946.2:c.2815G>A	XP_011544248.1:p.Gly939Arg
XM_011545947.2:c.2815G>A	XP_011544249.1:p.Gly939Arg
XM_011545948.2:c.1924G>A	XP_011544250.1:p.Gly642Arg
XM_017023671.1:c.2815G>A	XP_016879160.1:p.Gly939Arg
XM_017023672.2:c.2809G>A	XP_016879161.1:p.Gly937Arg
XM_017023673.2:c.2809G>A	XP_016879162.1:p.Gly937Arg
NM_024675.4:c.2809G>A MANE Select	NP_078951.2:p.Gly937Arg