Canonical Allele Identifier: CA395127697
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 946162
ClinVar RCV Id: RCV001216963
dbSNP Id: rs1555460612

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630285C>G , CM000678.2:g.23630285C>G GRCh38
NC_000016.9:g.23641606C>G , CM000678.1:g.23641606C>G GRCh37
NC_000016.8:g.23549107C>G NCBI36
NG_007406.1:g.16073G>C , LRG_308:g.16073G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1875G>C ENSP00000460666.3:p.Lys625Asn
ENST00000565038.2:c.212-1010G>C ENSP00000459882.2:n.212-1010G>C
ENST00000566069.6:c.1869G>C ENSP00000459237.2:p.Lys623Asn
ENST00000697377.2:c.1875G>C ENSP00000513286.2:p.Lys625Asn
ENST00000697379.2:c.1875G>C ENSP00000513287.2:p.Lys625Asn
ENST00000561514.2:c.984G>C ENSP00000460666.2:p.Lys328Asn
ENST00000697374.1:c.984G>C ENSP00000513284.1:p.Lys328Asn
ENST00000697375.1:n.3216G>C
ENST00000697376.1:c.984G>C ENSP00000513285.1:p.Lys328Asn
ENST00000697377.1:c.984G>C ENSP00000513286.1:p.Lys328Asn
ENST00000697378.1:n.2389G>C
ENST00000697379.1:c.984G>C ENSP00000513287.1:p.Lys328Asn
ENST00000697380.1:n.797G>C
ENST00000697381.1:n.564G>C
ENST00000697382.1:c.984G>C ENSP00000513288.1:p.Lys328Asn
ENST00000697383.1:c.49-1010G>C ENSP00000513289.1:n.49-1010G>C
ENST00000697384.1:n.2023G>C
ENST00000261584.9:c.1869G>C MANE Select ENSP00000261584.4:p.Lys623Asn
ENST00000261584.8:c.1869G>C ENSP00000261584.4:p.Lys623Asn
ENST00000565038.1:c.87-1010G>C
ENST00000568219.5:c.984G>C ENSP00000454703.2:p.Lys328Asn
NM_024675.3:c.1869G>C , LRG_308t1:c.1869G>C NP_078951.2:p.Lys623Asn
XM_011545946.1:c.1875G>C XP_011544248.1:p.Lys625Asn
XM_011545947.1:c.1875G>C XP_011544249.1:p.Lys625Asn
XM_011545948.1:c.984G>C XP_011544250.1:p.Lys328Asn
XR_950851.1:n.2665G>C
XM_011545946.2:c.1875G>C XP_011544248.1:p.Lys625Asn
XM_011545947.2:c.1875G>C XP_011544249.1:p.Lys625Asn
XM_011545948.2:c.984G>C XP_011544250.1:p.Lys328Asn
XM_017023671.1:c.1875G>C XP_016879160.1:p.Lys625Asn
XM_017023672.2:c.1869G>C XP_016879161.1:p.Lys623Asn
XM_017023673.2:c.1869G>C XP_016879162.1:p.Lys623Asn
NM_024675.4:c.1869G>C MANE Select NP_078951.2:p.Lys623Asn