Canonical Allele Identifier: CA269569

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126680
• ClinVar RCV Id: RCV001030342
• dbSNP Id: rs180177124
• MyVariant Identifiers: chr16:g.23635403G>A (hg19) ; chr16:g.23624082G>A (hg38)
• PubMed: PMID:21165770

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624082G>A , CM000678.2:g.23624082G>A	GRCh38
NC_000016.9:g.23635403G>A , CM000678.1:g.23635403G>A	GRCh37
NC_000016.8:g.23542904G>A	NCBI36
NG_007406.1:g.22276C>T , LRG_308:g.22276C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2767C>T	ENSP00000460666.3:p.Gln923Ter
ENST00000565038.2:c.*242C>T	ENSP00000459882.2:n.*242C>T
ENST00000566069.6:c.2761C>T	ENSP00000459237.2:p.Gln921Ter
ENST00000697377.2:c.2605C>T	ENSP00000513286.2:p.Gln869Ter
ENST00000697379.2:c.2767C>T	ENSP00000513287.2:p.Gln923Ter
ENST00000561514.2:c.1876C>T	ENSP00000460666.2:p.Gln626Ter
ENST00000697374.1:c.1876C>T	ENSP00000513284.1:p.Gln626Ter
ENST00000697375.1:n.4108C>T
ENST00000697376.1:c.1876C>T	ENSP00000513285.1:p.Gln626Ter
ENST00000697377.1:c.1714C>T	ENSP00000513286.1:p.Gln572Ter
ENST00000697378.1:n.3281C>T
ENST00000697379.1:c.1876C>T	ENSP00000513287.1:p.Gln626Ter
ENST00000697380.1:n.2053C>T
ENST00000697381.1:n.1456C>T
ENST00000697382.1:c.1876C>T	ENSP00000513288.1:p.Gln626Ter
ENST00000697383.1:c.295C>T	ENSP00000513289.1:p.Gln99Ter
ENST00000261584.9:c.2761C>T MANE Select	ENSP00000261584.4:p.Gln921Ter
ENST00000261584.8:c.2761C>T	ENSP00000261584.4:p.Gln921Ter
ENST00000565038.1:c.333C>T
ENST00000568219.5:c.1876C>T	ENSP00000454703.2:p.Gln626Ter
NM_024675.3:c.2761C>T , LRG_308t1:c.2761C>T	NP_078951.2:p.Gln921Ter
XM_011545946.1:c.2767C>T	XP_011544248.1:p.Gln923Ter
XM_011545947.1:c.2767C>T	XP_011544249.1:p.Gln923Ter
XM_011545948.1:c.1876C>T	XP_011544250.1:p.Gln626Ter
XR_950851.1:n.3557C>T
XM_011545946.2:c.2767C>T	XP_011544248.1:p.Gln923Ter
XM_011545947.2:c.2767C>T	XP_011544249.1:p.Gln923Ter
XM_011545948.2:c.1876C>T	XP_011544250.1:p.Gln626Ter
XM_017023671.1:c.2767C>T	XP_016879160.1:p.Gln923Ter
XM_017023672.2:c.2761C>T	XP_016879161.1:p.Gln921Ter
XM_017023673.2:c.2761C>T	XP_016879162.1:p.Gln921Ter
NM_024675.4:c.2761C>T MANE Select	NP_078951.2:p.Gln921Ter